Part 6, Reference for Chapter 72: Genetic Disorders of Collagen, Elastin and Dermal Matrix

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Ehlers–Danlos syndrome

1 Beighton P, de Paepe A, Danks A, et al. International nosology of heritable disorders of connective tissue, Berlin. Am J Med Genet 1988;29:581–4. Cross Ref link Pubmed link
2 Beighton P, de Paepe A, Steinmann B, et al. Ehlers–Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet 1998;77:31–7. Cross Ref link Pubmed link
3 Steinmann B, Royce PM, Superti‐Furga A. The Ehlers–Danlos syndrome. In: Royce PM, Steinmann B, eds. Connective Tissue and its Heritable Disorders: Molecular, Genetic and Medical Aspects. New York: Wiley–Liss, 2002:431–523.
4 Defendi GL. Genetics of Ehlers–Danlos Syndrome. Treatment and Management emedicine.medscape.com/article/943567‐overview (last accessed January 2015).
5 Byers PH. Disorders of collagen biosynthesis and structure. In: Scriver C, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 2nd edn. Edinburgh: Churchill Livingstone, 2001:1065–81.
6 Cunliffe WJ, Ead RD. A case of Ehlers–Danlos syndrome occurring with Marfan's syndrome. Clin Exp Dermatol 1977;2:117–20. Cross Ref link Pubmed link
7 Levine AS, Michael AF Jr. Ehlers–Danlos syndrome with renal tubular acidosis and medullary sponge kidney. J Pediatr 1967;71:107–13. Cross Ref link Pubmed link
8 Dwyer NG, Bartlett JR, Nicholls AC, et al. Collagen deficiency and ruptured cerebral aneurysms. J Neurosurg 1983;59:16–20. Cross Ref link Pubmed link
9 Kuivaniemi H, Prockop DJ, Wu Y, et al. Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients. Neurology 1993;43:2652–8. Cross Ref link Pubmed link
10 De Paepe A, Malfait F. The Ehlers–Danlos syndrome, a disorder with many faces. Clin Genet 2012;82:1–11. Cross Ref link Pubmed link
11 Bopp P, Hatam K, Busat P, et al. Cardiovascular aspects of the Ehlers–Danlos syndrome. Circulation 1965;32:602–7. Cross Ref link Pubmed link
12 Cikrit DF, Miles JH, Silver D. Spontaneous arterial perforation: the Ehlers–Danlos specter. J Vasc Surg 1987;5:248–55. Cross Ref link Pubmed link
13 Byers PH, Holbrook KA, McGillivray B, et al. Clinical and ultrastructural heterogeneity of type IV Ehlers–Danlos syndrome. Hum Genet 1979;47:141–50. Cross Ref link Pubmed link
14 Laurent R, Agache P. L'acrogéria est‐elle une maladie du fibroblasts? Dermatologica 1974;148:28–38. Cross Ref link Pubmed link
15 Kashiwagi H, Riddle JM, Abraham JP. Functional and ultrastructural abnormalities of platelets in Ehlers–Danlos syndrome. Ann Intern Med 1965;63:249–54. Cross Ref link Pubmed link
16 Anstey A, Mayne K, Winter K, et al. Platelet and coagulation studies in Ehlers–Danlos syndrome. Br J Dermatol 1991;125:155–63. Cross Ref link Pubmed link
17 Holbrook KA, Byers PH. Skin is a window on heritable disorders of connective tissue. Am J Med Genet 1989;34:105–21. Cross Ref link Pubmed link
18 Miyake N, Kosho T, Mizumoto S, et al. Loss‐of‐function mutations of CHST14 in a new type of Ehlers–Danlos syndrome. Hum Mutat 2010;31:966–74. Cross Ref link Pubmed link
19 Symoens S, Syx D, Malfait F, et al. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat 2012;33:1485–93. Cross Ref link Pubmed link
20 Ritelli M, Dordoni C, Venturini M, et al. Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis 2013;8:58. Cross Ref link Pubmed link
21 Pope FM, Narcisi P, Nicholls AC, et al. COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. Br J Dermatol 1996;135:163–81. Cross Ref link Pubmed link
22 Superti‐Furga A, Gugler E, Gitzelmann R, et al. Ehlers–Danlos syndrome type IV. A multi‐exon deletion in one of the two COL3A1 alleles affecting structure, stability and processing of type III procollagen. J Biol Chem 1988;263:6226–32. Pubmed link
23 Byers PH. Ehlers–Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity. J Invest Dermatol 1994;103:S47–52. Cross Ref link
24 Pepin M, Schwarze U, Superti‐Furga A, Byers PH. Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type. N Engl J Med 2000;342:673–80. Cross Ref link Pubmed link
25 Leistritz DF, Pepin MG, Schwarze U, Byers PH. COL3A1 haploinsufficiency results in a variety of Ehlers–Danlos syndrome type IV with delayed onset of complications and longer life expectancy. Genet Med 2011;13:717–22. Cross Ref link Pubmed link
26 Dembure PP, Janko AR, Priest JH, et al. Ascorbate regulation of collagen biosynthesis in Ehlers–Danlos syndrome type VI. Metabolism 1987;36:687–91. Cross Ref link Pubmed link
27 Steinmann B, Tuderman L, Peltonen L, et al. Evidence for a structural mutation of procollagen type I in a patient with Ehlers–Danlos syndrome type VII. J Biol Chem 1980;255:8887–93. Pubmed link
28 Wirtz MK, Glanville RW, Steinmann B, et al. Ehlers–Danlos syndrome type VII B. Deletion of 18 amino acids comprising the N‐telopeptide region of a proα₂(I) chain. J Biol Chem 1987;262:16 376–85.
29 Watson RB, Wallis GA, Holmes DF, et al. Ehlers–Danlos syndrome type VII B. Incomplete cleavage of abnormal type I procollagen by N‐proteinase in vitro results in the formation of copolymers of collagen and partially cleared pNcollagen that are near circular in cross‐section. J Biol Chem 1992;267:9093–100. Pubmed link
30 D'Alessio M, Ramirez F, Blumberg BD, et al. Characterization of a COL1A1 splicing defect in a case of Ehlers–Danlos syndrome type VII. Further evidence of molecular homogeneity. Am J Hum Genet 1991;49:400–6. Pubmed link
31 Cole WG, Evans R, Sillence DO. The clinical features of Ehlers–Danlos syndrome type VII due to a deletion of 21 amino acids from the pro‐α₁(I) chain of type I procollagen. J Med Genet 1987;24:698–701. Cross Ref link Pubmed link
32 Colige A, Sieron AL, Li S‐W, et al. Human Ehlers–Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen I N‐proteinase gene. Am J Hum Genet 1999;65:308–17. Cross Ref link Pubmed link
33 Burrows NP. The molecular genetics of the Ehlers–Danlos syndrome. Clin Exp Dermatol 1999;24:99–106. Cross Ref link Pubmed link
34 Ostlere LS, Pope FM, Holden CA. Cutis laxa complicating Ehlers–Danlos syndrome type II. Clin Exp Dermatol 1996;21:135–7. Cross Ref link Pubmed link
35 Beighton P, Grahame R, Bird H. Hypermobility of Joints, 3rd edn. London: Springer‐Verlag, 1999:147–77.
36 Phadke JG. Ehlers–Danlos syndrome with surgical repair of penetration of diaphragm and torsion of stomach. J R Soc Med 1979;72:781–3. Pubmed link
37 Burrows NP, Monk BE, Harrison JB, Pope FM. Giant bladder diverticulum in Ehlers–Danlos syndrome type I causing outflow obstruction. Clin Exp Dermatol 1998;23:109–12. Cross Ref link Pubmed link
38 Holzberg M, Hewan‐Lowe KO, Olansky AJ. The Ehlers–Danlos syndrome: recognition, characterization, and importance of a milder variant of the classic form. J Am Acad Dermatol 1998;19:656–66. Cross Ref link
39 Rebora A, Fiallo P, Muzio GF. Prediction of poor outcome of cutaneous surgery. Lancet 1989;ii:1109. Pubmed link
40 Grahame R, Bird HA, Child A, et al. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol 2000;27:1777–9. Pubmed link
41 Beighton PH, Solomon L, Soskolne CL. Articular mobility in an African population. Ann Rheum Dis 1973;32:413–18. Cross Ref link Pubmed link
42 Zweirs MC, Bristow J, Steijlen PM, et al. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers–Danlos syndrome. Am J Hum Genet 2003;73:214–17. Cross Ref link Pubmed link
43 Narcisi P, Richards AJ, Ferguson SD, et al. A family with Ehlers–Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine in type III collagen. Hum Mol Genet 1994;3:1617–20. Cross Ref link Pubmed link
44 Kaalund S, Høgsaa B, Grevy C. Coxa saltans in patients with Ehlers–Danlos syndrome type III. Scand J Rheumatol 1988;17:229–30. Cross Ref link Pubmed link
45 Sacheti A, Szemere J, Bernstein B, et al. Chronic pain is a manifestation of the Ehlers–Danlos syndrome. J Pain Symptom Manage 1997;14:88–93. Cross Ref link Pubmed link
46 Gazit Y, Nahir AM, Grahame R, et al. Dysautonomia in the joint hypermobility syndrome. Am J Med 2003;115:33–40. Cross Ref link Pubmed link
47 Fikree A, Grahame R, Aktar R, et al. A prospective evaluation of undiagnosed joint hypermobility syndrome in patients with gastrointestinal symptoms. Clin Gastroenterol Hepatol 2014;12:1680–7. Cross Ref link Pubmed link
48 Hakim AJ, Grahame R, Norris P, Hopper C. Local anaesthetic failure in joint hypermobility syndrome. J R Soc Med 2005 Feb;98(2):84–5. Cross Ref link Pubmed link
49 Roberts DLL, Pope FM, Nicholls AL, et al. Ehlers–Danlos type IV mimicking non‐accidental injury in a child. Br J Dermatol 1984;111:341–5. Cross Ref link Pubmed link
50 Pope FM, Narcisi P, Nicholls AC, et al. Clinical presentations of Ehlers–Danlos syndrome type IV. Arch Dis Child 1988;63:1016–25. Cross Ref link Pubmed link
51 Taylor DJ, Wilcox I, Russell JK. Ehlers–Danlos syndrome during pregnancy. A case report and review of the literature. Obstet Gynecol Surv 1981;36:277–81. Cross Ref link Pubmed link
52 Mehta RK, Burrows NP, Payne CM, et al. Elastosis perforans serpiginosa and associated disorders. Clin Exp Dermatol 2001;26:521–4. Cross Ref link Pubmed link
53 Beighton P, Curtis D. X‐linked Ehlers–Danlos syndrome type V. The next generation. Clin Genet 1985;27:472–8. Cross Ref link Pubmed link
54 Siegel RC, Black CM, Bailey AJ. Cross‐linking of collagen in the X‐linked Ehlers–Danlos type V. Biochem Biophys Res Commun 1979;88:281–7. Cross Ref link Pubmed link
55 Di Ferrante N, Leachman RD, Angelini P, et al. Lysyl oxidase deficiency in Ehlers–Danlos syndrome type V. Connect Tissue Res 1975;3:38–53.
56 Ihme A, Krieg T, Nerlich A, et al. Ehlers–Danlos syndrome type VI. Collagen type specificity of defective lysyl hydroxylation in various tissues. J Invest Dermatol 1984;83:161–5. Cross Ref link Pubmed link
57 Pinnell SR, Krane SM, Kenzora JE, et al. A heritable disorder of connective tissue. Hydroxylysine‐deficient collagen disease. N Engl J Med 1972;266:1013–20. Cross Ref link
58 Sussman M, Lichtenstein JR, Nigra TP, et al. Hydroxylysine‐deficient collagen in a patient with a form of the Ehlers–Danlos syndrome. J Bone Joint Surg Am 1974;56:1228–34. Pubmed link
59 Yeowell HN, Walker LC. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers‐Danlos syndrome type VI. Molec Genet Metab 2000;71:212–24. Cross Ref link Pubmed link
60 Chamson A, Berbis P, Fabre JF, et al. Collagen biosynthesis and isomorphism in a case of Ehlers–Danlos syndrome type VI. Arch Dermatol Res 1987;279:303–7. Cross Ref link Pubmed link
61 Eyre DR, Glimcher MJ. Reducible cross‐links in hydroxylysine‐deficient collagens of a heritable disorder of connective tissue. Proc Natl Acad Sci USA 1972;69:2594–8. Cross Ref link Pubmed link
62 Steinmann B, Eyre DR, Shao P. Urinary pyridinoline cross‐links in Ehlers–Danlos syndrome type VI. Am J Hum Genet 1995;57:1505–8. Pubmed link
63 Wenstrup RJ, Murad S, Pinnell SR. Ehlers–Danlos syndrome type VI; clinical manifestation of collagen lysyl hydroxylase deficiency. J Pediatr 1989;115:405–9. Cross Ref link Pubmed link
64 Malfait F, De Paepe A The Ehlers–Danlos syndrome. Adv Exp Med Biol 2014;802:129–43. Cross Ref link Pubmed link
65 Malfait F, Syx D, Vlummens P, et al. Musculocontractural Ehlers–Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan‐4‐sulfotransferase 1 encoding CHST14 gene. Hum Mutat 2010 Nov;31(11):1233–9. Cross Ref link Pubmed link
66 Kosho T, Miyake N, Hatamochi A, et al. A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations. Am J Med Genet A 2010;152A:1333–46. Pubmed link
67 Miyake N, Kosho T, Mizumoto S, et al. Loss‐of‐function mutations of CHST14 in a new type of Ehlers–Danlos syndrome. Hum Mutat 2010;31:966–74. Cross Ref link Pubmed link
68 Giunta C, Elçioglu NH, Albrecht B, et al. Spondylocheiro dysplastic form of the Ehlers–Danlos syndrome – an autosomal‐recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet 2008;82:1290–305. Cross Ref link Pubmed link
69 Baumann M, Giunta C, Krabichler B, et al. Mutations in FKBP14 cause a variant of Ehlers–Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet 2012;90:201–16. Cross Ref link Pubmed link
70 Klaassens M, Reinstein E, Hilhorst‐Hofstee Y, et al. Ehlers–Danlos arthrochalasia type (VIIA‐B) – expanding the phenotype: from prenatal life through adulthood. Clin Genet 2012;82:121–30. Cross Ref link Pubmed link
71 Malfait F, Symoens S, Coucke P, et al. Total absence of the alpha‐2(I) chain of collagen type I causes a rare form of Ehlers‐Danlos syndrome with hypermobility and propensity to cardiac valvular problems. J Med Genet 2006;43:e36 Cross Ref link Pubmed link
72 Smith LT, Wertelecki W, Milstone LM, et al. Human dermatosparaxis: a form of Ehlers–Danlos syndrome that results from failure to remove the amino‐terminal propeptide of type I procollagen. Am J Hum Genet 1992;51:235–44. Pubmed link
73 Wertelecki W, Smith LT, Byers PH. Initial observations of human dermatosparaxis: Ehlers–Danlos syndrome type VII C. J Pediatr 1992;121:558–64. Cross Ref link Pubmed link
74 Nusgens BV, Verellen‐Dumoulin C, Hermanns Le T, et al. Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis. Nat Genet 1992;1:214–17. Cross Ref link Pubmed link
75 Lehmann HW, Mundlos S, Winterpacht A, et al. Ehlers–Danlos type VII. Phenotype and genotype. Arch Dermatol Res 1994;286:425–8. Cross Ref link Pubmed link
76 Malfait F, De Coster P, Hausser I. The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC). Am J Med Genet A 2004 Nov 15;131(1):18–28. Cross Ref link Pubmed link
77 Bar‐Yosef O, Polak‐Charcon S, Hoffman C, et al. Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC. Am J Med Genet A 2008;146A:3054–7. Cross Ref link Pubmed link
78 Solomons J, Coucke P, Symoens S, et al. Dermatosparaxis (Ehlers–Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery. Am J Med Genet A 2013;161A:1122–5. Cross Ref link Pubmed link
79 Linch DC, Acton CH. Ehlers–Danlos syndrome presenting with juvenile destructive periodontitis. Br Dent J 1979;147:95–6. Cross Ref link Pubmed link
80 Stewart RD, Hollister DW, Rimoin DL. A new variant of the Ehlers–Danlos syndrome. An autosomal dominant disorder of fragile skin, abnormal scarring, and generalised periodontitis. Birth Defects Orig Artic Ser 1977;13:85–93. Pubmed link
81 Lapière CM, Nusgens BV. Ehlers–Danlos type VIII skin has a reduced proportion of type III collagen. J Invest Dermatol 1981;76:422 (Abstract).
82 Reinstein E, DeLozier CD, Simon Z, et al. Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. Eur J Hum Genet 2013;21:233–6. Cross Ref link Pubmed link
83 Rahman N, Dunstan M, Teare MD, et al. Ehlers–Danlos syndrome with severe early‐onset periodontal disease (EDS‐VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. Am J Hum Genet 2003;73:198–204. Cross Ref link Pubmed link
84 Arneson MA, Hammerschmidt DE, Furcht LT, et al. A new form of Ehlers–Danlos syndrome: fibronectin corrects defective platelet function. JAMA 1980;244:144–7. Cross Ref link Pubmed link
85 Hernandez A, Aguirre‐Negrete MG, Ramirez‐Soltero S, et al. A distinct variant of the Ehlers–Danlos syndrome. Clin Genet 1979;16:335–9. Cross Ref link Pubmed link
86 Kresse H, Rosthøj S, Quentin E, et al. Glycosaminoglycan‐free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. Am J Hum Genet. 1987;4:436–53.
87 Guo MH, Stoler J, Lui J, Nilsson O, et al. Redefining the progeroid form of Ehlers–Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. Am J Med Genet A 2013;16:2519–27.
88 Okajima T, Fukumoto S, Furukawa K, et al. Molecular basis for the progeroid variant of Ehlers–Danlos syndrome. J Biol Chem 1999;274:28 841–4.
89 Faiyaz‐Ul‐Haque M, Zaidi SH, Al‐Ali M, et al. A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type. Am J Med Genet A 2004;128A:39–45. Cross Ref link Pubmed link
90 Malfait F, Kariminejad A, Van Damme T, et al. Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers–Danlos‐syndrome‐like connective tissue disorder. Am J Hum Genet 2013;92:935–45. Cross Ref link Pubmed link
91 Nakajima M, Mizumoto S, Miyake N, et al. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet 2013;92:927–34. Cross Ref link Pubmed link
92 Schalkwijk J, Zweere MC, Steijlen PM, et al. A recessive form of the Ehlers–Danlos syndrome caused by tenascin‐X deficiency. N Engl J Med 2001;345:1167–75. Cross Ref link Pubmed link
93 Burch GH, Gong Y, Liu W, et al. Tenascin‐X deficiency is associated with Ehlers–Danlos syndrome. Nat Genet 1997;17:104–8. Cross Ref link Pubmed link
94 Voermans NC, Jenniskens GJ, Hamel BC, et al. Ehlers–Danlos syndrome due to tenascin‐X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies. Am J Med Genet A 2007;143A:2215–19. Cross Ref link Pubmed link
95 O'Connell M, Burrows NP, van Vlijmen‐Willems MJ, et al. Tenascin‐X deficiency and Ehlers–Danlos syndrome: a case report and review of the literature. Br J Dermatol. 2010;163:1340–5. Cross Ref link Pubmed link
96 Mao JR, Taylor G, Dean WB, et al. Tenascin‐X deficiency mimics Ehlers–Danlos syndrome in mice through alteration of collagen deposition. Nat Genet 2002;30:421–5. Cross Ref link Pubmed link
97 Gómez‐Garre P, Seijo M, Gutiérrez‐Delicado E, et al. Ehlers Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. J Med Genet 2006;43:232–7. Pubmed link
98 Sheen VL, Jansen A, Chen MH, et al. Filamin A mutations cause periventricular heterotopia with Ehlers–Danlos syndrome. Neurology 2005;64:254–62. Cross Ref link Pubmed link
99 Brennan TE. Abnormal elastic tissue in cartilage hair hypoplasia. Arch Dermatol 1988;124:1411–14. Cross Ref link Pubmed link
100 Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF‐beta receptor. N Engl J Med 2006;355:788–98. Cross Ref link Pubmed link
101 Abu A, Frydman M, Marek D, et al. Deleterious mutations in the Zinc‐Finger 469 gene cause brittle cornea syndrome. Am J Hum Genet 2008;82:1217–22. Cross Ref link Pubmed link
102 Burkitt Wright EM, Spencer HL, Daly SB, et al. Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet 2011;88:767–77. Cross Ref link Pubmed link
103 Bergqvist D, Björck M, Wanhainen A. Treatment of vascular Ehlers–Danlos syndrome: a systematic review. Ann Surg. 2013;258:257–61. Cross Ref link Pubmed link
104 Dembure PP, Janko AR, Priest JH, et al. Ascorbate regulation of collagen biosynthesis in Ehlers–Danlos syndrome type VI. Metabolism 1987;36:687–91. Cross Ref link Pubmed link
105 Pasquali M, Still MJ, Vales T, et al. Abnormal formation of collagen cross‐links in skin fibroblasts cultured from patients with Ehlers–Danlos syndrome type VI. Proc Assoc Am Phys 1997;109:33–41. Pubmed link
106 Hurst BS, Lange SS, Kullstam SM, et al. Obstetric and gynecologic challenges in women with Ehlers–Danlos syndrome. Obstet Gynecol 2014;123:506–13. Cross Ref link Pubmed link
107 Castori M, Morlino S, Dordoni C, et al. Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome hypermobility type) in 82 Italian patients. Am J Med Genet A 2012;158A:2176–82. Cross Ref link Pubmed link
108 Ong KT, Perdu J, De Backer J, et al. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers–Danlos syndrome: a prospective randomised, open, blinded‐endpoints trial. Lancet 2010;376:1476–84. Cross Ref link Pubmed link

Prolidase deficiency

109 Goodman SI, Solomons CC, Muschenheim F, et al. A syndrome resembling lathyrism associated with iminodipeptiduria. Am J Med 1968;45:152–9. Cross Ref link Pubmed link
110 Ogata A, Tanaka S, Tomoda T, et al. Autosomal recessive prolidase deficiency. Arch Dermatol 1981;117:689–97. Cross Ref link Pubmed link
111 Mandel H, Abeling N, Gutman A, et al. Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis. Prenat Diagn 2000;20:927–9. Cross Ref link Pubmed link
112 Shrinath M, Walter JH, Haeney M, et al. Prolidase deficiency and systemic lupus erythematosus. Arch Dis Child 1997;76:441–4. Cross Ref link Pubmed link
113 Kurien BT, D'Sousa A, Bruner BF, et al. Prolidase deficiency breaks tolerance to lupus‐associated antigens. Int J Rheum Dis 2013;16:674–80. Cross Ref link Pubmed link
114 Jackson SH, Dennis AW, Greenberg M. Iminodipeptiduria: a genetic defect in recycling collagen; a method for determining prolidase in erythrocytes. Can Med Assoc J 1975;113:762–3.
115 Forlina A, Luupi A, Vaghi P, et al. Mutation analysis of five new patients affected by prolidase deficiency; the lack of enzyme activity causes necrosis‐like cell death in cultured fibroblasts. Hum Genet 2002;111:3114–22.
116 Powell GF, Kurosky A, Maniscalco RM. Prolidase deficiency: report of a second case with quantification of the excessively excreted amino‐acids. J Pediatr 1977;91:242–6. Cross Ref link Pubmed link
117 Isemura M, Hanyu T, Gejyo F, et al. Prolidase deficiency with imidodipeptiduria. Clin Chim Acta 1979;93:401–7. Cross Ref link Pubmed link
118 Milligan A, Graham‐Brown RAC, Burns DA, et al. Prolidase deficiency. A case report and literature review. Br J Dermatol 1989;121:405–9. Cross Ref link Pubmed link
119 Luder AS, Mandel H, Khyat M, et al. Chronic lung disease and cystic fibrosis phenotype in prolidase deficiency; a newly recognized association. J Pediatr 2007;150:656–8. Cross Ref link Pubmed link
120 Klar A, Navon‐Elkan P, Rubinow A, et al. Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. Eur J Pediatr 2010;169:727–32. Cross Ref link Pubmed link
121 Arata J, Umemura S, Yamamoto Y, et al. Prolidase deficiency. Arch Dermatol 1979;114:62–7. Cross Ref link
122 Sheffield LJ, Schlesinger P, Faull K, et al. Imidopeptiduria, skin ulceration and edema in a boy with prolidase deficiency. J Pediatr 1977;91:578–83. Cross Ref link Pubmed link
123 Jemec GB, Moe AT. Topical treatment of skin ulcers in prolidase deficiency. Pediatr Dermatol 1996;13:58–60. Cross Ref link Pubmed link
124 Monafo V, Marseglia GL, Maghnie M, Dyne KM, Cetta G. Transient beneficial effect of GH replacement therapy and topical GH application on skin ulcers in a boy with prolidase deficiency. Pediatr Dermatol 2000;17:227–30. Cross Ref link Pubmed link
125 Ogata A, Tanaka S, Tomoda T, et al. Autosomal recessive prolidase deficiency. Three patients with recalcitrant ulcers. Arch Dermatol. 1981;117:689–97. Cross Ref link Pubmed link
126 Hechtman P, Richter A, Corman N, et al. In situ activation of human erythrocyte prolidase. Potential for enzyme replacement therapy enzyme replacement therapy. Pediatr Res 1988;24:709–12. Cross Ref link Pubmed link
127 Yasuda K, Ogata K, Kodama H, et al. Corticosteroid treatment of prolidase deficiency skin lesions by inhibiting iminodipeptide‐primed neutrophil superoxide generation. Br J Dermatol 1999;141:846–51. Cross Ref link Pubmed link
128 Lupi A, Casado B, Soli M, et al. Therapeutic apheresis exchange in two patients with prolidase deficiency. Br J Dermatol 2002;147:1237–40. Cross Ref link Pubmed link
129 Mansour L, El‐Ashmawy A, Gheida S, Hassan A. Prolidase deficiency syndrome: a rare entity. Egyptian Dermatol Online J 2011;7:14.

Osteogenesis imperfecta

130 Sillence DO, Senn A, Danks DM, et al. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101–16. Cross Ref link Pubmed link
131 Van Dijk FS, Pals G, Van Rijn RR, et al. Classification of osteogenesis imperfecta revisited. Eur J Med Genet 2010;53:1–5. Cross Ref link Pubmed link
132 Kuurila K, Pynnonen S, Grenman R. Stapes surgery in osteogenesis imperfecta in Finland. Ann Otol Rhinol Laryngol 2004;113:187–93. Cross Ref link Pubmed link
133 Malfait F, Symoens S, Goemans N, et al. Helical mutations in type I collagen that affect the processing of the amino‐propeptide result in an osteogenesis imperfecta/ Ehlers–Danlos syndrome overlap syndrome. Orphanet J Rare Dis 2013;8:78. Cross Ref link Pubmed link
134 Smith R. Osteogenesis imperfecta. BMJ 1984;289:394–5. Cross Ref link Pubmed link
135 Francis MJ, Williams KJ, Sykes BC, Smith R. The relative amounts of the collagen chains alpha 1 (I), alpha 2 and alpha 1 (III) in the skin of 31 patients with osteogenesis imperfecta. Clin Sci (Lond) 1981;60:617–23. Cross Ref link Pubmed link
136 http://www.orpha.net/ (last accessed January 2015).
137 Byers PH, Wallis GA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 1991;28:433–42. Cross Ref link Pubmed link
138 Pope FM, Nicholls AC. Heterogeneity of osteogenesis imperfecta congenita. Lancet 1980;i:820–1. Pubmed link
139 Pentinnen RP, Lichtenstein JR, Martin GR, et al. Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proc Natl Acad Sci USA 1975;72:586–9. Cross Ref link Pubmed link
140 Pyeritz RE, Levin LS. Aortic root dilatation and vascular dysfunction in osteogenesis imperfecta. Circulation 1981;64 (Suppl. 4):311 (Abstract 1193).
141 White NJ, Winearls CG, Smith R, et al. Cardiovascular abnormalities in osteogenesis imperfecta. Am Heart J 1983;106:1416–20. Cross Ref link Pubmed link
142 Francis MJ, Williams KJ, Sykes BC, Smith R. The relative amounts of the collagen chains alpha 1 (I), alpha 2 and alpha 1 (III) in the skin of 31 patients with osteogenesis imperfecta. Clin Sci (Lond) 1981;60:617–23. Cross Ref link Pubmed link
143 Nicholls AC, Pope FM, Craig D. An abnormal collagen α‐chain containing cysteine in autosomal dominant osteogenesis imperfecta. BMJ 1983;288:112–13. Cross Ref link
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145 Thompson EM, Young ID, Hall CM, et al. Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet 1987;24:390–405. Cross Ref link Pubmed link
146 Byers PH. Brittle bones, fragile molecular disorders of collagen gene structure and expression. Trends Genet 1990;6:293–300. Cross Ref link Pubmed link
147 Nicholls AC, Pope FM, Schloon H, et al. Biochemical heterogeneity of osteogenesis imperfecta: new variant. Lancet 1979;i:1193–5. Pubmed link
148 Shapiro JE, Phillips JA, Byers PH, et al. Prenatal diagnosis of lethal osteogenesis imperfecta (OI type II). J Paediatr 1982;100:127–33. Cross Ref link
149 Renaud A, Aucourt J, Weill J, et al. Radiographic features of osteogenesis imperfecta. Insights Imaging 2013;4:417–29. Cross Ref link Pubmed link
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151 Glorieux FH. Experience with bisphosphonates in osteogenesis imperfecta. Pediatrics 2007;119:S163–5. Cross Ref link Pubmed link
152 Horwitz EM, Prockop DJ, Gordon PL, et al. Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood 2001;97:1227–31. Cross Ref link Pubmed link
153 Horwitz EM, Prockop DJ, Fitzpatrick LA, et al. Transplantability and therapeutic effects of bone‐marrow derived mesenchymal cells in children with osteogenesis imperfecta. Nat Med 1999;5:309–13. Cross Ref link Pubmed link

Cutis laxa

154 Goltz RH, Hult AM, Goldfarb M, et al. Cutis laxa: a manifestation of generalized elastolysis. Arch Dermatol 1965;92:373–87. Cross Ref link Pubmed link
155 Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet 2009;17:1099–110. Cross Ref link Pubmed link
156 Ostlere LS, Pope FM, Holden CA. Cutis laxa complicating Ehlers–Danlos syndrome type II. Clin Exp Dermatol 1996;21:135–73. Cross Ref link Pubmed link
157 Urban Z, Davis EC. Cutis laxa: Intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism. Matrix Biol 2014;33C:16–22. Cross Ref link
158 Hashimoto K, Kanzaki T. Cutis laxa: ultrastructural and biochemical studies. Arch Dermatol 1975;111:861–73. Cross Ref link Pubmed link
159 Marchase P, Holbrook K, Pinnell SR. A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin. J Invest Dermatol 1980;75:399–403. Cross Ref link Pubmed link
160 Sephel GC, Byers PH, Holbrook KA, et al. Heterogeneity of elastin expression in cutis laxa fibroblast strains. J Invest Dermatol 1989;93:147–53. Cross Ref link Pubmed link
161 Berk DR, Bentley DD, Bayliss SJ, et al. Cutis laxa; A review. J Am Acad Dermatol 2012;66:842.e1–17. Cross Ref link Pubmed link
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163 Fitzsimmons JS, Gilbert G. Variable clinical presentations of cutis laxa. Clin Genet 1985;28:284–95. Cross Ref link Pubmed link
164 Urban Z. The complexity of elastic fiber biogenesis: the paradigm of cutis laxa. J Inv Dermatol 2012;132(E1);E12–14. Cross Ref link
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166 Urban Z, Gao J, Pope FM, Davis EC. Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. J Invest Dermatol 2005;124:1193–9. Cross Ref link Pubmed link
167 Callewaert B, Su C‐T, Damme TV, et al. Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum Mutat 2013;34:111–21. Cross Ref link Pubmed link
168 De Barsey AM. Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. Helv Paediatr Acta 1968;23:305–13. Pubmed link
169 Kunze J. De Barsey syndrome. Eur J Pediatr 1985;144:348–54. Cross Ref link Pubmed link
170 Pontz BF, Zepp F, Stöss H. Biochemical, morphological and immunological findings in a patient with a cutis laxa‐associated inborn disorder (de Barsey syndrome). Eur J Pediatr 1986;145:428–34. Cross Ref link Pubmed link
171 Dimopoulou A, Fischer B, Gardeitchik T, et al. Genotype‐phenotype spectrum of PYCR1‐related autosomal recessive cutis laxa. Mol Genet Metab 2013;110:352–62. Cross Ref link Pubmed link
172 Peltonen L, Kuivaniemi H, Palotie A, et al. Alterations in copper metabolism in the Menkes syndrome and a new subtype of Ehlers–Danlos syndrome. Biochemistry 1983;22:6156–63. Cross Ref link Pubmed link
173 Byers PH, Siegel RC, Holbrook K, et al. X‐linked cutis laxa: defective cross‐link formation in collagen. N Engl J Med 1980;303:61–5. Cross Ref link Pubmed link
174 Levinson B, Gitschier J, Bulpe D, et al. Are X‐linked cutis laxa and Menkes disease allelic? Nat Genet 1993;3:6. Cross Ref link
175 Levinson B, Conant R, Schnur R, et al. A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Hum Mol Genet 1996;5:1737–42. Cross Ref link Pubmed link
176 Gupta N, Phadke SR. Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. Pediatr Dermatol 2006;23:225–30. Cross Ref link Pubmed link
177 Cohen MM Jr, Kreiborg S. Cutaneous manifestations of Apert syndrome. Am J Med Genet 1995;58:94–6. Cross Ref link Pubmed link
178 Nahas FX, Sterman S, Gemperli R, Ferreira MC. The role of plastic surgery in congenital cutis laxa: a 10‐year follow‐up. Plast Reconstr Surg 1999;104:1174–9. Cross Ref link Pubmed link
179 Tamura BM, Lourenco LM, Platt A, et al. Cutis laxa: improvement of facial aesthetics by using botulinum toxin. Dermatol Surg 2004;30:1518–20. Pubmed link
180 George DH, Casey RE. Menkes disease after copper histidine replacement therapy: case report. Pediatr Dev Pathol 2001;4:281–8. Cross Ref link Pubmed link
181 Tassabehji M, Metcalfe K, Hurst J, et al. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet 1998;7:1021–8. Cross Ref link Pubmed link
182 Zhang MC, He L, Giro M, et al. Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J Biol Chem 1999;274:981–6. Cross Ref link Pubmed link
183 Rodriguez‐Revenga L, Iranzo P, Badenas C, et al. A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Arch Dermatol 2004;140:1135–9. Pubmed link
184 Markova D, Zou Y, Rinpfeil F, et al. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin‐5 (FBLN5) gene. Am J Hum Genet 2003;72:998–1004. Cross Ref link Pubmed link
185 Loeys B, Van Maldergem L, Mortier G, et al. Homozygosity for a missense mutation in fibulin‐5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet 2002;11:2113–18. Cross Ref link Pubmed link
186 Hucthagowder V, Sausgruber N, Kim KH, et al. Fibulin‐4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet 2006;78:1075–80. Cross Ref link Pubmed link
187 Urban Z, Hucthagowder V, Schürmann N, et al. Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Am J Hum Genet 2009;85:593–605. Cross Ref link Pubmed link
188 Kornak U, Reynders E, Dimopoulou A, et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+ ‐ATPase subunit ATP6V0A2. Nat Genet 2008;40:32–4. Cross Ref link Pubmed link
189 Guernsey DL, Jiang H. Evans SC, et al. Mutation in pyrroline‐5‐carboxylate reductase 1 genein families with cutis laxa type 2. Am J Hum Genet 2009;85:120–9. Cross Ref link Pubmed link
190 Lin D‐S, Yeung C‐Y, Liu H‐L, et al. A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family. Am J Med Genet Part A 2011;155:1285–9. Cross Ref link
191 Baumgartner MR, Hu CA, Almashanu S, et al. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)‐pyrroline‐5‐carboxylate synthase. Hum Mol Genet 2000;9:2853–8. Cross Ref link Pubmed link
192 Skidmore DL, Chitayat D, Morgan T, et al. Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ‐pyrroline‐5‐carboxylate synthase (P5CS). Am J Med Genet A 2011;155A:1848–56. Cross Ref link Pubmed link
193 Reversade B, Escande‐Beillard N, Dimopoulou A, et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet 2009;41:1016–21. Cross Ref link Pubmed link
194 Kaler SG, Gallo LK, Proud VK, et al. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genet 1994:8:195–202. Cross Ref link Pubmed link
195 Lisker R, Hernandez A, Martinez‐Lavin M, et al. Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review. Am J Med Genet 1979;3:389–95. Cross Ref link Pubmed link
196 Hennies HC, Kornak U, Zhang H, et al. Gerodermia osteodysplastica is caused by mutations inSCYL1BP1, a Rab‐6 interacting golgin. Nature Genet 2008;40;1410–12. Cross Ref link Pubmed link
197 Basel‐Vanagaite L, Sarig O, Hershkovitz D, et al. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet 2009;85:254–63. Cross Ref link Pubmed link
198 Koppe R, Kaplan P, Hunter A, MacMurray B. Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation and facial abnormalities (scarf syndrome). Am J Med Genet 1989;34:305–12. Cross Ref link Pubmed link
199 Coucke PJ, Willaert A, Wessels MW, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet 2006;38:452–7. Cross Ref link Pubmed link
200 Costello JM. A new syndrome. NZ Med J 1971;74:397–40.
201 Morice‐Picard F, Ezzedine K, Delrue MA, et al. Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review. Pediatr Dermatol. 2013;30:665–73. Cross Ref link Pubmed link
202 Eyaid W, Al Harbi T, Anazi S, et al. Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis 2013 Nov;36:997–1004. Cross Ref link Pubmed link
203 Majewski F. Lenz‐Majewski hyperostotic dwarfism: reexamination of the original patient. Am J Med Genet 2000;93:335–8. Cross Ref link Pubmed link
204 Sousa SB, Jenkins D, Chanudet E, et al. Gain‐of‐function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz–Majewski syndrome. Nature Genet 2014;46:70–6. Cross Ref link Pubmed link

Williams–Beuren syndrome

205 Williams JC, Barratt‐Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation 1961;24:1311–18. Cross Ref link Pubmed link
206 Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and certain facial appearance. Circulation 1962;26:1235–40. Cross Ref link Pubmed link
207 Perez Jurado LA, Peoples R, Kaplan P, Hamel BCJ, Francke U. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent‐of‐origin effects on growth. Am J Hum Genet 1996;59:781–92. Pubmed link
208 Strømme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol 2002;17:269–71. Cross Ref link Pubmed link
209 Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder: Williams syndrome. Nat Genet 1993;5:11–16. Cross Ref link Pubmed link
210 Tassabehji M. Williams–Beuren syndrome: a challenge for genotype–phenotype correlations. Hum Mol Genet 2003;12:R229–37. Cross Ref link Pubmed link
211 Pober BR. Williams–Beuren syndrome. N Engl J Med 2010;362:239–52. Cross Ref link Pubmed link
212 Lightwood R, Sheldon W, Harris C, et al. Hypercalcaemia in infants and vitamin D. BMJ 1965;2:149.
213 Christiano AM, Uitto J. Molecular pathology of the elastic fibres. J Invest Dermatol 1994;103(Suppl.):S53–7. Cross Ref link
214 Morris CA, Dilts C, Dempsey SA, et al. The natural history of Williams syndrome: physical characteristics. J Pediatr 1988;113:318–26. Cross Ref link Pubmed link
215 Kozel BA, Bayliss SJ, Berk DR, et al. Skin findings in Williams syndrome. Am J Med Genet A 2014;164A:2217–25. Cross Ref link Pubmed link
216 Giddins NG, Finley JP, Nanton MA, et al. The natural course of supravalvular aortic stenosis and peripheral pulmonary artery stenosis in Williams syndrome. Br Heart J 1989;62:315–19. Cross Ref link Pubmed link
217 Johnson LW, Fishman RA, Schneider B, et al. Familial supravalvular aortic stenosis: report of a large family and review of the literature. Chest 1976;70:494–500. Cross Ref link Pubmed link
218 Curran ME, Atkinson DL, Ewart AK, et al. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 1993;73:159–68. Cross Ref link Pubmed link
219 Sforzini C, Milani D, Fossali E, et al. Renal tract ultrasonography and calcium homeostasis in WilliamsBeuren syndrome. Pediatr Nephrol 2002;17:899–902. Cross Ref link Pubmed link
220 Cherniske EM, Carpenter TO, Klaiman C, et al. Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet A 2004;131:255–64. Cross Ref link Pubmed link
221 Cambiaso P, Orazi C, Digilio MC, et al. Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome. J Pediatr 2007;150:62–5. Cross Ref link Pubmed link
222 Broder K, Reinhardt E, Ahern J, et al. Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. Am J Med Genet 1999;83:356–60. Cross Ref link Pubmed link
223 Wessel A, Gravenhorst V, Buchhorn R, et al. Risk of sudden death in the WilliamsBeuren syndrome. Am J Med Genet A 2004;127A:234–7. Cross Ref link Pubmed link

Michelin tyre baby

224 Bass HN, Caldwell S, Brooks BS. Michelin tire baby syndrome: familial constriction bands during infancy and early childhood in four generations. Am J Med Genet 1993;45:370–2. Cross Ref link Pubmed link
225 Glover MT, Malone M, Atherton DJ. Michelin‐tire baby syndrome resulting from diffuse smooth muscle hamartoma. Pediatr Dermatol 1989;6:329–31. Cross Ref link Pubmed link
226 Ross CM. Generalized folded skin with an underlying lipomatous nevus. “The Michelin Tire baby”. Arch Dermatol 1969;100:320–3. Cross Ref link Pubmed link
227 Nomura Y, Ota M, Tochimaru H. Self‐healing congenital generalized skin creases: Michelin tire baby syndrome. J Am Acad Dermatol 2010;63:1110–11. Cross Ref link Pubmed link
228 Basel‐Vanagaite L, Sprecher E, Gat A, et al. New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies. Pediatr Dermatol 2012;29:89–95. Cross Ref link Pubmed link
229 Ulucan H, Koparir E, Koparir A, et al. Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome. Clin Dysmorphol 2013;22:87–90. Cross Ref link Pubmed link
230 Rothman IL. Michelin tire baby syndrome: A review of the literature and a proposal for diagnostic criteria with adoption of the name circumferential skin folds syndrome. Ped Dermatol 2014;31:659–63. Cross Ref link

Marfan syndrome

231 Pyeritz RE, Dietz HC. The Marfan syndrome and other microfibrillary disorders. In: Royce PM, Steinmann B, eds. Connective Tissue and its Heritable Disorders: Molecular, Genetic and Medical Aspects, 2nd edn. New York: Wiley–Liss, 2002:585–626.
232 Cunliffe WJ, Ead RD. A case of Marfan's syndrome occurring with Ehlers–Danlos syndrome. Clin Exp Dermatol 1977;2:117–20. Cross Ref link Pubmed link
233 Graul‐Neumann LM, Kienitz T, Robinson PN, et al. Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1‐gene. Am J Med Genet Part A 2010;152A:2749–55. Cross Ref link Pubmed link
234 Takenouchi T, Hida M, Sakamoto Y, et al. Severe congenital lipodystrophy and a progeroid appearance: mutations in the penultimate exon of FBN1 causing a recognizable phenotype. Am J Med Genet A 2013;161A:3057–62. Cross Ref link Pubmed link
235 Cunliffe WJ, Hudgson P, Fulthorpe JJ, et al. A calcitonin‐secreting medullary thyroid carcinoma with mucosal neuromas, Marfanoid features, myopathy and pigmentation. Am J Med 1970;48:121–5. Cross Ref link
236 Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF‐β activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003;33:407–11. Cross Ref link Pubmed link
237 Hollister DW, Godfrey MP, Keene DR, et al. Immunohistologic abnormalities of the microfibrillar‐fiber system in the Marfan syndrome. N Engl J Med 1990;323:152–9. Cross Ref link Pubmed link
238 Milewicz DM, Pyeritz R, Stanley Crawford E, et al. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J Clin Invest 1992;89:79–86. Cross Ref link Pubmed link
239 Roberts WC. The spectrum of cardiovascular disease in the Marfan syndrome. A clinico‐morphologic study of 18 necropsy patients. Am Heart J 1982;104:115–35. Cross Ref link Pubmed link
240 Soyers CP, Goltz RW, Mottiaz J. Pulmonary elastic tissue in generalized elastolysis (cutis laxa) and Marfan's syndrome: a light and electron microscopic study. J Invest Dermatol 1975;65:451–7. Cross Ref link Pubmed link
241 Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337–9. Cross Ref link Pubmed link
242 Loeys B, De Backer J, Van Acker P, et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 2004;24(2)140–6. Cross Ref link Pubmed link
243 Toudjarska I, Kilpatrick MW, Lembessis P, et al. Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis. Am J Med Genet 2001;99:294–302. Cross Ref link Pubmed link
244 N.P. Burrows. Inherited defects of connective tissue: Ehlers–Danlos syndrome, Marfan's syndrome, and pseudoxanthoma elasticum. In: Warrell DA, Cox TM, Firth JD, eds. Oxford Textbook of Medicine, 5th edn. Oxford: Oxford University Press, 2010:3771–87. Cross Ref link
245 Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF‐beta receptor. New Engl J Med 2006;355:788–98. Cross Ref link Pubmed link
246 Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;47;476–85. Cross Ref link Pubmed link
247 Wilner HJ, Finby N. Skeletal manifestations in Marfan's syndrome. J Am Acad Dermatol 1964;187:490–5.
248 Wachtel JG. The ocular pathology of Marfan's syndrome including an explanation of ectopia lentis. Arch Ophthalmol 1966;76:512–22. Cross Ref link Pubmed link
249 Konradsen TR, Zetterström C. A descriptive study of ocular characteristics in Marfan syndrome. Acta Ophthalmol 2013;91:751–5. Cross Ref link Pubmed link
250 Beighton P. Mitral valve prolapse and a Marfanoid habitus. BMJ 1982;284:920. Cross Ref link Pubmed link
251 Loveman AB, Gordon AM, Fliegelmann MT. Marfan's syndrome. Arch Dermatol 1963;87:428–33. Cross Ref link
252 Grahame R, Pyeritz RE. The Marfan syndrome. Joint and skin manifestations are prevalent and correlated. Br J Rheumatol 1995;34:126–31. Cross Ref link Pubmed link
253 Bergman R, Nevet MJ, Gescheidt‐Shoshany H, et al. Atrophic skin patches with abnormal elastic fibers as a presenting sign of the MASS phenotype associated with mutation in the fibrillin 1 gene. JAMA Dermatol 2014;150:885–9. Cross Ref link Pubmed link
254 Loughridge LW. Renal abnormalities in the Marfan syndrome. QJM 1959;28:531–43. Pubmed link
255 Sbar GD, Venkataseshan VS, Huang Z, et al. Renal disease in Marfan syndrome. Am J Nephrol 1996;16:320–6. Cross Ref link Pubmed link
256 Booms P, Cisler J, Mathews KR, et al. Novel exon skipping mutation in the fibrillin‐1 gene: two ‘hot spots’ for the neonatal Marfan syndrome. Clin Genet 1999;55:110–17. Cross Ref link Pubmed link
257 Cruysberg JRM, Boers GHJ, Frans Trijbels JM, et al. Delay in diagnosis of homocystinuria: retrospective study of consecutive patients. BMJ 1996;313:1037–40. Cross Ref link Pubmed link
258 Robinson PN, Arteaga‐Solis E, Baldock C, et al. The molecular genetics of Marfan syndrome and related disorders. J Med Genet 2006;43:769–87. Cross Ref link Pubmed link
259 Paterick TE, Humphries JA, Ammar KA, et al. Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management. Am J Med 2013;126:670–8. Cross Ref link Pubmed link
260 Ammash NM, Sundt TM, Connolly HM. Marfan syndrome – diagnosis and management. Curr Probl Cardiol 2008;33:7–39. Cross Ref link Pubmed link
261 Groenink M, den Hartog AW, Franken R, et al. Losartan reduces aortic dilatation in adults with Marfan syndrome: a randomized controlled trial. Eur Heart J 2013;34:3491–500. Cross Ref link Pubmed link
262 Lacro RV, Dietz HC, Sleeper LA, et al. Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med 2014;371:2061–71. Cross Ref link Pubmed link
263 Toudjarska I, Kilpatrick MW, Lembessis P, et al. Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis. Am J Med Genet 2001;99:294–302. Cross Ref link Pubmed link

Hyaline fibromatosis syndrome

264 Dowling O, Difeo A, Ramirez MC, et al. Mutations in capillary morphogenesis gene‐2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003;73:957–66. Cross Ref link Pubmed link
265 Hanks S, Adams S, Douglas J, et al. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003;73:791–800. Cross Ref link Pubmed link
266 Shieh JT, Swidler P, Martignetti JA, et al. Systemic hyalinosis: a distinctive early childhood‐onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2). Pediatrics 2006;118:e1485–92. Cross Ref link Pubmed link
267 Denadai R, Raposo‐Amaral CE, Bertola D, et al. Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system. Am J Med Genet A 2012;158A:732–42. Cross Ref link Pubmed link
268 Winik B, Boente M, Asail R. Juvenile hyaline fibromatosis: ultrastructural study. Am J Dermatopathol 1998;20:372–8. Cross Ref link
269 Glover MT, Lake BD, Atherton DJ. Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis. Pediatr Dermatol 1992;9:255–8. Cross Ref link Pubmed link
270 Stucki U, Spycher MA, Eich G, et al. Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. Am J Med Genet 2001;100:122–9. Cross Ref link Pubmed link
271 Muniz ML, Lobo AZ, Machado MC, et al. Exuberant juvenile hyaline fibromatosis in two patients. Pediatr Dermatol 2006;23:458–64. Cross Ref link Pubmed link
272 Landing BH, Nadorra R. Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. Pediatr Pathol 1986;6:55–79. Cross Ref link Pubmed link
273 Slimani S, Haddouche A, Haid S, Ladjouze‐Rezig A. Juvenile hyaline fibromatosis: Focus on radiographic features in adulthood. Rheumatol Int 2011;31:273–6. Cross Ref link Pubmed link
274 Quintal D, Jackson R. Juvenile hyaline fibromatosis. A 15‐year follow up. Arch Dermatol 1985;121:1062–3. Cross Ref link Pubmed link

Stiff skin syndrome

275 Loeys BL, Gerber EE, Riegert‐Johnson D, et al. Mutations in fibrillin‐1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med 2010;2:23ra20. Pubmed link
276 Amorim AG, Aidé MK, Durães SM, Rochael MC Stiff skin syndrome – case report. An Bras Dermatol 2011;86:S178–81. Cross Ref link Pubmed link
277 McCalmont TH, Gilliam AE. A subcutaneous lattice‐like array of thick collagen is a clue to the diagnosis of stiff skin syndrome. J Cutan Pathol 2012;39:2–4. Cross Ref link Pubmed link
278 Esterly NB, McKusick VA. Stiff skin syndrome. Pediatrics1971;47:360–9. Pubmed link
279 Liu T, McCalmont TH, Frieden IJ, et al. The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature. Arch Dermatol 2008;144:1351–9. Pubmed link
280 Jablonska S, Blaszczyk M. Stiff skin syndrome is highly heterogeneous, and congenital fascial dystrophy is its distinct subset. Pediatr Dermatol 2004;21:508–10. Cross Ref link Pubmed link
281 Jablonska S, Blaszczyk M. Scleroderma‐like indurations involving fascias: an abortive form of congenital fascial dystrophy (stiff skin syndrome). Pediatr Dermatol 2000;17:105–10. Cross Ref link Pubmed link
282 Jiminez SA. Scleroderma‐like alterations in collagen metabolism in the tight‐skin mouse. Arthritis Rheum 1984;27:180–5. Cross Ref link Pubmed link
283 Jablonska S, Schubert H, Kikuchi I. Congenital fascial dystrophy: stiff skin syndrome – a human counterpart of the tight‐skin mouse. J Am Acad Dermatol 1989;21:943–50. Cross Ref link Pubmed link

Winchester syndrome

284 Winchester P, Grossman H, Lim WN, et al. A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. Am J Roentgenol 1969;106:121–8. Cross Ref link
285 Esterley NB, McKusick VA. Stiff skin syndrome. Pediatrics 1971;47:360–9. Pubmed link
286 Evans BR, Mosig RA, Lobl M, et al. Mutation of membrane type‐1 metalloproteinase, MT1‐MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. Am J Hum Genet 2012;91:572–6. Cross Ref link Pubmed link
287 Holmbeck K, Bianco P, Caterina J, et al. MT1‐MMP‐deficient mice develop dwarfism, osteopenia, arthritis, and connective tissue disease due to inadequate collagen turnover. Cell 1999;99:81–92. Cross Ref link Pubmed link
288 Hollister DW, Rimoin DL, Lachman RS, et al. The Winchester syndrome: a nonlysosomal connective tissue disease. J Pediatr 1974;84:701–9. Cross Ref link Pubmed link
289 Zankl A, Pachman L, Poznanski A, et al. Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. J Bone Miner Res 2007;22:329–33. Cross Ref link Pubmed link
290 Cohen AH, Hollister DW, Reed WB. The skin in the Winchester syndrome. Arch Dermatol 1975;111:230–6. Cross Ref link Pubmed link
291 Prapanpoch S, Jorgensen RJ, Langlais RP, et al. Winchester syndrome: a case report and literature review. Oral Surg Oral Med Oral Pathol 1992;74:671–7. Cross Ref link Pubmed link
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Restrictive dermopathy

293 Smigiel R, Jakubiak A, Esteves‐Vieira V, et al. Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. Am J Med Genet A 2010;152A:447–52. Cross Ref link Pubmed link
294 Navarro CL, De Sandre‐Giovannoli A, Bernard R, et al. Lamina A and ZMPSTE24 (FACE‐1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004;13:2493–503. Cross Ref link Pubmed link
295 Young SG, Meta M, Yang SH, et al. Prelamin A farnesylaion and progeroid syndromes. J Biol Chem 2006;281:39741–5. Cross Ref link Pubmed link
296 Holbrook KA, Dale BA, Witt DR, et al. Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy). J Invest Dermatol 1987;88:330–40. Cross Ref link Pubmed link
297 Paige DG, Lake BD, Bailey AJ, et al. Restrictive dermopathy: a disorder of fibroblasts. Br J Dermatol 1992;127:630–4. Cross Ref link Pubmed link
298 Witt DR, Hayden MR, Holbrook KA, et al. Restrictive dermopathy: a newly recognised autosomal recessive skin dysplasia. Am J Med Genet 1986;24:631–48. Cross Ref link Pubmed link
299 Welsh KM, Smoller BR, Holbrook KA, et al. Restrictive dermopathy. Report of two affected siblings and a review of the literature. Arch Dermatol 1992;128:228–31. Cross Ref link Pubmed link
300 Happle R, Stekhoven JHS, Hamel BCJ, et al. Restrictive dermopathy in two brothers. Arch Dermatol 1992;128:232–5. Cross Ref link Pubmed link
301 Smitt JH, van Asperen CJ, Niessen CM, et al. Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. Arch Dermatol 1998;134:577–9. Cross Ref link Pubmed link
302 Khanna P, Opitz JM, Gilbert‐Barness E. Restrictive dermopathy: report and review. Fetal Pediatr Pathol 2008;27:105–18. Cross Ref link Pubmed link

Progeria

303 Hennekam RC. Hutchinson–Gilford progeria syndrome: review of the phenotype. Am J Med Genet A 2006;140:2603–24. Cross Ref link Pubmed link
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306 Misteli T, Scaffidi P. Genome instability in progeria: when repair gets old. Nat Med 2005;11:718–19. Cross Ref link Pubmed link
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308 Jimbow K, Kobayashi H, Ishii M, et al. Scar and keloid like lesions in progeria. An electron microscopic and immunohistochemical study. Arch Dermatol 1988;124:1261–6. Cross Ref link Pubmed link
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310 Reichel W, Garcia‐Bunuel R. Pathologic findings in progeria: myocardial fibrosis and lipofuscin pigment. Am J Clin Pathol 1970;53:243–55. Cross Ref link Pubmed link
311 Hamer L, Kaplan F, Fallon M, et al. The musculoskeletal manifestations of progeria. A literature review. Orthopedics 1988;11:763–9. Pubmed link
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317 Badame AJ. Progeria. Arch Dermatol 1989;125:540–4. Cross Ref link Pubmed link
318 Young LW, Radebaugh JF, Rubin P, et al. New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. Birth Defects Orig Art Ser 1971;VII(7):291–7.
319 de Silva DC, Wheatley DN, Herriot R, et al. Mulvihill–Smith progeria‐like syndrome: a further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities. Am J Med Genet 1997;69:56–64. Cross Ref link Pubmed link
320 Devos EA, Leroy JG, Frijns JP, et al. The Wiedemann–Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. Eur J Pediatr 1981;136:245–8. Cross Ref link Pubmed link
321 Snigula F, Rautenstrauch T. A new neonatal progeroid syndrome. Eur J Pediatr 1981;136:325–4. Cross Ref link Pubmed link
322 Pivnick EK, Angle B, Kaufman RA, et al. Neonatal progeroid (Wiedemann–Rautenstrauch) syndrome: a report of five new cases and review. Am J Med Genet 2000;90:131–40. Cross Ref link Pubmed link
323 Lisker R, Hernández A, Martinez‐Lavin M. Gerodermia osteodysplastica hereditaria: report of three brothers and a literature review. Am J Med Genet 1979;3:389–95. Cross Ref link Pubmed link
324 Al‐Gazali LI, Sztriha L, Skaff F, Haas D. Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? Am J Med Genet 2001;101:213–20. Cross Ref link Pubmed link
325 Nanda A, Alsaleh QA, Al‐Sabah H, et al. Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. Pediatr Dermatol 2008;25:66–71. Cross Ref link Pubmed link
326 Gupta N, Phadke SR. Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. Pediatr Dermatol 2006;23:225–30. Cross Ref link Pubmed link
327 Graul‐Neumann LM, Kienitz T, Robinson PN, et al. Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1‐gene. Am J Med Genet Part A 2010;152A:2749–55. Cross Ref link Pubmed link
328 Gilkes JJH, Sharvill DE, Wells RS. The premature ageing syndromes. Br J Dermatol 1974;91:243–62. Cross Ref link Pubmed link
329 Gordon LB, Kleinman ME, Miller DT, et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome. Proc Natl Acad Sci USA 2012;109:16666–71. Cross Ref link Pubmed link
330 Ullrich NJ, Kieran MW, Miller DT, et al. Neurologic features of Hutchinson–Gilford progeria syndrome after lonafarnib treatment. Neurology 2013;81:427–30. Cross Ref link Pubmed link

Werner syndrome

331 Martin GM, Oshima J. Lessons from human progeroid syndromes. Nature 2000;408:263–6. Cross Ref link Pubmed link
332 Furuichi Y. Premature aging and predisposition to cancers caused by mutations in RecQ family helicases. Ann NY Acad Sci 2001;928:121–31. Cross Ref link Pubmed link
333 Yu C‐E, Oshima J, Fu Y‐H, et al. Positional cloning of the Werner's syndrome gene. Science 1996;272:258–62. Cross Ref link Pubmed link
334 Martin GM, Oshima J, Gray MD, Poot M. What geriatricians should know about the Werner syndrome. J Am Geriatr Soc 1999;47:1136–44. Cross Ref link Pubmed link
335 Satoh M, Imai M, Sugimoto M, Goto M, Furuichi Y. Prevalence of Werner's syndrome heterozygotes in Japan. Lancet 1999;353:1766. Cross Ref link Pubmed link
336 Goto M, Ishikawa Y, Sugimoto M, Furuichi Y. Werner syndrome: a changing pattern of clinical manifestations in Japan (1917– 2008). Biosci Trends 2013;7:13–22. Pubmed link
337 Friedrich K, Lee L, Leistritz DF, et al. WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic‐specific alterations. Hum Genet 2010;128:103–11. Cross Ref link Pubmed link
338 Crabbe L, Jauch A, Naeger CM, et al. Telomere dysfunction as a cause of genomic instability in Werner syndrome. Proc Natl Acad Sci USA 2007;104:2205–10. Cross Ref link Pubmed link
339 Bauer EA, Uitto J, Tan EM, et al. Werner's syndrome. Evidence for preferential regional expression of a generalized mesenchymal cell defect. Arch Dermatol 1988;124:90–101. Cross Ref link Pubmed link
340 Hisama FM, Kubisch C, Martin GM, Oshima J. Clinical utility gene card for: Werner syndrome. Eur J Hum Genet 2012;20, doi:10.1038/ejhg.2011.265. Cross Ref link Pubmed link
341 Kuzuya H, Imura H. Insulin resistance associated with congenital disorders. Insulin receptors in Werner's syndrome, myotonic dystrophy and type A extreme insulin resistance. Jpn J Med 1988;27:219–21. Cross Ref link Pubmed link
342 Vannini P, Ciavarella A, Forlani G, et al. Investigation of insulin resistance associated with Werner's syndrome. Diab Metab 1987;13:81–5.
343 Jonas JB, Ruprecht KW, Schmitz‐Valckenbarg P. Ophthalmic surgical complications in Werner's syndrome. Ophthalmic Surg 1987;18:760–4. Pubmed link
344 Lauper JM, Krause A, Vaughan TL, Monnat RJ Jr. Spectrum and risk of neoplasia in Werner syndrome: a systematic review. PLOS One 2013;8:e59709. Cross Ref link Pubmed link
345 Cohen JI, Arnett EN, Kolodny AL, et al. Cardiovascular features of the Werner syndrome. Am J Cardiol 1987;59:493–5. Cross Ref link Pubmed link
346 Oshima J, Martin GM, Hisama FM. Werner Syndrome. GeneReviews™ [Internet]. Pagon RA, Adam MP, Bird TD, et al., eds. Seattle (WA): University of Washington, Seattle;1993–2014.
347 Goto M, Kindynis P, Resnick D, Sartoris DJ. Osteosclerosis of the phalanges in Werner syndrome. Radiology 1989;172:841–3. Cross Ref link Pubmed link

Acrogeria

348 Gottron H. Familiäre akrogeria. Arch Dermatol Syphilol (Berlin) 1941;181:571–83. Cross Ref link
349 Hashimoto C, Abe M, Onozawa N, et al. Acrogeria (Gottron type): a vascular disorder? Br J Dermatol 2004;151:497–501. Cross Ref link Pubmed link
350 De Groot WP, Tafelkruyer J, Woerdemann MJ, et al. Familial acrogeria (Gottron). Br J Dermatol 1980;103:213–23. Cross Ref link Pubmed link
351 Blaszczyk M, De Paepe A, Nuytinck L, et al. Acrogeria of the Gottron type in a mother and son. Eur J Dermatol 2000;10:36–40. Pubmed link
352 Pope FM, Narcisi P, Nicholls AC, et al. COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. Br J Dermatol 1996;135:163–81. Cross Ref link Pubmed link
353 Jansen T, De Paepe A, Luytinck N, Plewig G. COL3A1 mutations leading to acrogeria (Gottron type). Br J Dermatol 2000;142:178–9. Cross Ref link Pubmed link
354 Hadj‐Rabia S, Mashiah J, Roll P, et al. A new laminin A mutation associated with acrogeria syndrome. J Invest Dermatol 2014:134;2274–7. Cross Ref link Pubmed link
355 Laurent R, Agache P. L'acrogéria est‐elle une maladie du fibroblasts? Dermatologica 1974;148:28–38. Cross Ref link Pubmed link
356 Bruckner‐Tuderman L, Vogel A, Schnyder UW. Fibroblasts of an acrogeria patient produce normal amounts of type I and III collagen. Dermatologica 1987;174:157–65. Cross Ref link Pubmed link
357 Gilkes JJH, Sharvill DE, Wells RS, et al. The premature ageing syndromes. Reports of eight cases and description of a new entity named metageria. Br J Dermatol 1974;91:243–62. Cross Ref link Pubmed link
358 Greally JM, Boone LY, Lenkey SG, et al. Acrometageria: a spectrum of ‘premature aging’ syndromes. Am J Med Genet 1992;44:334–9. Cross Ref link Pubmed link
359 Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF‐beta receptor. N Engl J Med 2006;355:788–98. Cross Ref link Pubmed link

Familial mandibuloacral dysplasia

360 Young LW, Radebaugh JF, Rubin P, et al. New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. Birth Defects Orig Art Ser 1971;VII(7):291–7.
361 Danks DM, Mayne V, Wettenhall NB, et al. Craniomandibular dermato‐dysostosis. Birth Defects Orig Art Ser 1974;X:99–105. Pubmed link
362 Novelli G, Muchir A, Sangiuolo F, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA‐encoding lamin A/C. Am J Hum Genet 2002;71:426–31. Cross Ref link Pubmed link
363 Agarwal AK, Fryns J‐P, Auchus RJ, et al. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet 2003;12:1995–2001. Cross Ref link Pubmed link
364 Meaburn KJ, Cabuy E, Bonne G, et al. Primary laminopathy fibroblasts display altered genome organization and apoptosis. Aging Cell 2007;6:139–53. Cross Ref link Pubmed link
365 Tenconi R, Miotti F, Miotti A, et al. Another Italian family with mandibulo‐acral dysplasia. Am J Med Genet 1986;24:357–64. Cross Ref link Pubmed link
366 Zina AM, Cravario A, Bundino S. Familial mandibulo‐acral dysplasia. Br J Dermatol 1981;105:719–23. Cross Ref link Pubmed link
367 Welsh O. Study of a family with a new progeroid syndrome. Birth Defects Orig Artic Ser 1975;11:25–38. Pubmed link
368 Agarwal AK, Kazachkova I, Ten S, Garg A. severe mandibuloacral dysplasia‐associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. J Clin Endocrinol Metab 2008;93:4617–23. Cross Ref link Pubmed link
369 Simha V, Garg A. Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. J Clin Endocrinol Metab 2002;87:776–85. Cross Ref link Pubmed link
370 Ahmad Z, Zackai E, Medne L, Garg A. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. Am J Med Genet A 2010;152A:2703–10. Cross Ref link Pubmed link
371 Puente XS, Quesada V, Osorio FG, et al. Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Am J Hum Genet 2011;88:650–6. Cross Ref link Pubmed link
372 Cabanillas R, Cadiñanos J, Villameytide JA, et al. Néstor–Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations. Am J Med Genet A 2011;155A:2617–25. Cross Ref link Pubmed link
373 Martin GM, Oshima J. Lessons from human progeroid syndromes. Nature 2000;408:263–6. Cross Ref link Pubmed link

Mulvihill–Smith syndrome

374 Breinis P, Alves FG, Alves CA, et al. The eleventh reported case of Mulvihill–Smith syndrome in the literature. BMC Neurol 2014;7;14:4. Cross Ref link
375 de Silva DC, Wheatley DN, Herriot R, et al. Mulvihill–Smith progeria‐like syndrome: a further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities. Am J Med Genet 1997;69:56–64. Cross Ref link Pubmed link
376 Mulvihill JJ, Smith DW. Another disorder with prenatal shortness of stature and premature aging. Birth Defects Orig Artic Ser 1975;11:368–70. Pubmed link
377 Yagihashi T, Kato M, Izumi K, et al. Case report: adult phenotype of Mulvihill–Smith syndrome. Am J Med Genet A 2009;149A:496–500. Cross Ref link Pubmed link
378 Bartsch O, Ludwig D, Schwinger E, Tympner KD. Severe complications and gastric carcinoma in Mulvihill–Smith syndrome. J Med Genet 1999;14:175.
379 Fühler‐Stiller M, Tronnier M. Suspicious pigmented tumor in Mulvihill–Smith syndrome. J Dtsch Dermatol Ges 2011;9:308–11. Pubmed link

Neonatal progeroid syndrome

380 Toriello HV. Wiedemann–Rautenstrauch syndrome. J Med Genet 1990;27:256–7. Cross Ref link Pubmed link
381 Akawi N, Ali B, Al Gazali L. A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. Birth Defects Res A Clin Mol Teratol 2013;97:456–62. Cross Ref link Pubmed link
382 Devos EA, Leroy JG, Frijns JP, et al. The Wiedemann–Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. Eur J Pediatr 1981;136:245–8. Cross Ref link Pubmed link
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384 Pivnick EK, Angle B, Kaufman RA, et al. Neonatal progeroid (Wiedemann–Rautenstrauch) syndrome: a report of five new cases and review. Am J Med Genet 2000;90:131–40. Cross Ref link Pubmed link
385 Petty EM, Laxova R, Wiedemann HR. Previously unrecognized congenital progeroid disorder. Am J Med Genet 1990;35:383–7. Cross Ref link Pubmed link
386 Cohen MM Jr. Hallermann–Streiff syndrome: a review. Am J Med Genet 1991;41:488–99. Cross Ref link Pubmed link
387 Graul‐Neumann LM, Kienitz T, Robinson PN, et al. Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1‐gene. Am J Med Genet A 2010;152A:2749–55. Cross Ref link Pubmed link

Pseudoxanthoma elasticum

388 Uitto J, Váradi A, Bercovitch L, et al. Pseudoxanthoma elasticum: progress in research toward treatment: summary of the 2012 PXE International Research Meeting. J Invest Dermatol 2013;133:1444–9. Cross Ref link Pubmed link
389 Uitto J, Bercovitch L, Terry SF, Terry PF. Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment: Summary of the 2010 PXE International Research Meeting. Am J Med Genet A 2011;155A:1517–26. Cross Ref link Pubmed link
390 Neldner KH. Pseudoxanthoma elasticum. Clin Dermatol 1988;6:1–159. Cross Ref link Pubmed link
391 Nitschke Y, Baujat G, Botschen U, et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 2012;90:25–39. Cross Ref link Pubmed link
392 Nitschke Y, Baujat G, Botschen U, et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 2012;90:25–39. Cross Ref link Pubmed link
393 Saxe N, Beighton P. Cutaneous manifestations of osteoectasia. Clin Exp Dermatol 1982;7:605–9. Cross Ref link Pubmed link
394 Hidano A, Nakajima S, Shimizu T, Kimata Z. Pseudoxanthoma elasticum associated with Marfan syndrome. Ann Dermatol Vénéréol 1979;106:503–5.
395 Le Saux O, Urban Z, Tschuch C, et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 2000;25:223–7. Cross Ref link Pubmed link
396 Bergen AAB, Plomp AS, Schuurman EJ, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 2000;25:228–31. Cross Ref link Pubmed link
397 Ringpfeil F, Lebwohl MG, Christiano AM, et al. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP binding cassette (ABC) transporter. Proc Natl Acad Sci USA 2000;97:6001–6. Cross Ref link Pubmed link
398 Ilias A, Urban Z, Seidl TL, et al. Loss of ATP‐dependent transport actvitiy in pseudoxanthoma elasticum‐associated mutants of human ABCC6 (MRP6). J Biol Chem 2002;277:16860–7. Cross Ref link Pubmed link
399 Li Q, Uitto J. Mineralization/anti‐mineralization networks in the skin and vascular connective tissues. Am J Pathol 2013;183:10–18. Cross Ref link Pubmed link
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401 Fang ML, Astarita RN, Steinman H. Cardiac calcifications and yellow papules in a young man. Arch Dermatol 1988;124:1559–64. Cross Ref link
402 Jackson A, Loh CL. Pulmonary calcification and elastic tissue damage in pseudoxanthoma elasticum. Histopathology 1980;4:607–11. Cross Ref link Pubmed link
403 Tan WC, Rodeck CH. Placental calcification in pseudoxanthoma elasticum. Ann Acad Med Singapore 2008;37:598–600. Pubmed link
404 Vanakker OM, Voet D, Petrovic M, et al. Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers. Br J Radiol 2006;79:221–5. Cross Ref link Pubmed link
405 Bercovitch L, Schepps B, Koelliker S, et al. Mammographic findings in pseudoxanthoma elasticum. J Am Acad Dermatol 2003;48:359–66. Cross Ref link Pubmed link
406 Lebwohl M, Phelps RG, Yannuzzi L, et al. Diagnosis of pseudoxanthoma elasticum in patients without characteristic skin lesions. N Engl J Med 1987;317:347–50. Cross Ref link Pubmed link
407 Brown SJ, Talks SJ, Needham SJ, et al. Pseudoxanthoma elasticum: biopsy of clinically normal skin in the investigation of patients with angioid streaks. Br J Dermatol 2007;157:748–51. Cross Ref link Pubmed link
408 Pfender EG, Vanakker O, Terry SF, et al. Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet 2007;44:621–8. Cross Ref link Pubmed link
409 Li Q, Schumacher W, Siegel D, et al. Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. Br J Dermatol 2012;166:1107–11. Cross Ref link Pubmed link
410 Li Q, Brodsky JL, Conlin L, et al. Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum. J Invest Dermatol 2014;134:658–65. Cross Ref link Pubmed link
411 Plomp AS, Toonstra J, Bergen AAB, et al. Proposal for updating the pseudoxanthoma elasticum classiﬁcation system and a review of the clinical ﬁndings. Am J Med Genet Part A 2010;152A:1049–58. Cross Ref link Pubmed link
412 Li T‐H, Tseng C‐R, Hsiao G‐H. An unusual cutaneous manifestation of pseudoxanthoma elasticum mimicking reticulate pigmentary disorders. Br J Dermatol 1966;134:1157–9. Cross Ref link
413 Hartman A, Hartman‐Visser SR. Pseudoxanthoma elasticum with extensive comedo formation. Dermatologica 1977;154:318–19. Pubmed link
414 Heyl T. Pseudoxanthoma elasticum with granulomatous skin lesions. Arch Dermatol 1967;96:528–31. Cross Ref link Pubmed link
415 Lebwohl M, Lebwohl E, Bercovitch L. Prominent mental (chin) crease: a new sign of pseudoxanthoma elasticum. J Am Acad Dermatol 2003;48:620–2. Cross Ref link Pubmed link
416 Le Boulanger G, Labrèze C, Croué A, et al. An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. Am J Med Genet A 2010;152A:118–23. Cross Ref link Pubmed link
417 Bardsley JL, Ruben‐Koehler P. Pseudoxanthoma elasticum: angiographic manifestations in abdominal vessels. Radiology 1969;93:559–62. Cross Ref link Pubmed link
418 Lefthériotis G, Abraham P, Le Corre Y, et al. Relationship between ankle brachial index and arterial remodelling in pseudoxanthoma elasticum. J Vasc Surg 2011;54:1390–4. Cross Ref link Pubmed link
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422 Naouri M, Boisseau C, Bonicel P, et al. Manifestations of pseudoxanthoma elasticum in childhood. Br J Dermatol 2009;161635–9.
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424 Navarro‐Lopez F, Llorian A, Ferrer‐Roca O, et al. Restrictive cardiomyopathy in pseudoxanthoma elasticum. Chest 1980;78:113–15. Cross Ref link Pubmed link
425 Przybojewski JZ, Hoffman H, de Graaf AS, et al. Pseudoxanthoma elasticum with cardiac involvement. A case report and review of the literature. S Afr Med J 1981;59:268–75. Pubmed link
426 Connor PJ, Juergeens JL, Perry HO, et al. Pseudoxanthoma elasticum and angioid streaks. A review of 106 cases. Am J Med 1961;30:537–43. Cross Ref link Pubmed link
427 McWilliam RJ. Classification of angioid streaks. Br J Ophthalmol 1955;39:298–300. Cross Ref link Pubmed link
428 Clarkson JG, Altmann RD. Angioid streaks. Surv Ophthalmol 1982;26:235–46. Cross Ref link Pubmed link
429 Gills JP, Paton D. Mottled fundus oculi in pseudoxanthoma elasticum. Arch Ophthalmol 1963;73:792–5. Cross Ref link
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432 Audo I, Vanakker OM, Smith A, et al. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? Invest Ophthalmol Vis Sci 2007;48:4250–6. Cross Ref link Pubmed link
433 McCreedy CA, Zimmerman TJ, Webster SF. Management of upper gastrointestinal hemorrhage in patients with pseudoxanthoma elasticum. Surgery 1989;105:170–4. Pubmed link
434 Elejalda BR, de Elejalda MM, Samter T, et al. Manifestations of pseudoxanthoma elasticum during pregnancy: a case report and review of the literature. Am J Med Genet 1984;18:755–62. Cross Ref link Pubmed link
435 Viljoen DL, Beatty S, Beighton P. The obstetric and gynaecological implications of pseudoxanthoma elasticum. Br J Obstet Gynaecol 1987;94:884–8. Cross Ref link Pubmed link
436 Bercovitch L, Leroux T, Terry S, Weinstock MA. Pregnancy and obstetrical outcomes in pseudoxanthoma elasticum. Br J Dermatol 2004;151:1011–18. Cross Ref link Pubmed link
437 Cnudde F, Muller P, Hajjar C, et al. Pseudoxanthome élastique avec calcifications multiples et hyperphosphoremie. Ann Dermatol Vénéréol 1996;123:563–6.
438 Mallette LE, Mechanick JI. Heritable syndrome of pseudoxanthoma elasticum with abnormal phosphorus and vitamin D metabolism. Am J Med 1987;83:1157–62. Cross Ref link Pubmed link
439 Prince MJ, Schaefer H, Goldsmith RS, et al. Hyperphosphatemic tumoral calcinosis. Ann Intern Med 1982;96:586–91. Cross Ref link Pubmed link
440 Pai SH, Zak FG. Concurrence of pseudoxanthoma elasticum, elastosis perforans serpiginosa and systemic sclerosis. Dermatologica 1970;140:54–9. Cross Ref link Pubmed link
441 McPhaull JJ, Engel FL. Heterotopic calcification, hyperphosphataemia and angioid streaks of the retina. Am J Med 1961;31:488–9. Cross Ref link Pubmed link
442 Aessopos A, Farmakis D, Loukopoulos D. Elastic tissue abnormalities resembling pseudoxanthoma elasticum in β thalassemia and the sickling syndromes. Blood 2002;99:30–5. Cross Ref link Pubmed link
443 Berkner KL. The vitamin K‐dependent carboxylase. Annu Rev Nutr 2005;25:127–49. Cross Ref link Pubmed link
444 Li Q, Schurgers LJ, Smith AC, et al. Coexistent pseudoxanthoma elasticum and vitamin K‐dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. Am J Pathol 2009;174:534–40. Cross Ref link Pubmed link
445 Li Q, Grange DK, Armstrong NL, et al. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum‐like phenotypes. J Invest Dermatol 2009;129:553–63. Cross Ref link Pubmed link
446 Schirren H, Schirren CG, Stolz W, et al. Papular elastorrhexis: a variant of dermatofibrosis lenticularis disseminata (Buschke–Ollendorff syndrome). Dermatology 1994;189:368–72. Cross Ref link Pubmed link
447 Uitto J, Li Q, Jiang Q Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. J Invest Dermatol 2010;130:661–70. Cross Ref link Pubmed link
448 LaRusso J, Li Q, Uitto J. Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders – can diet help? J Dtsch Dermatol Ges 2011;9:586–93. Pubmed link
449 Renie WA, Pyeritz RE, Combs J, Fine SL. Pseudoxanthoma elasticum: High calcium intake in early life correlates with severity. Am J Med Genet 1984;19:235–44. Cross Ref link Pubmed link
450 Yoo JY, Blum RR, Singer GK, et al. A randomized controlled trial of oral phosphate binders in the treatment of pseudoxanthoma elasticum. J Am Acad Dermatol 2011;65:341–8. Cross Ref link Pubmed link
451 LaRusso J, Li Q, Uitto J. Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6^−/−). J Invest Dermatol 2009;129:1388–94. Cross Ref link Pubmed link
452 Li Q, Larusso J, Grand‐Pierre AE, Uitto J. Magnesium carbonate‐containing phosphate binder prevents connective tissue mineralization in Abcc6(‐/‐) mice‐potential for treatment of pseudoxanthoma elasticum. Clin Transl Sci 2009;2:398–404. Cross Ref link Pubmed link
453 Kupetsky‐Rincon EA, Li Q, Uitto J. Magnesium reduces carotid intima‐media thickness in a mouse model of pseudoxanthoma elasticum: a novel treatment biomarker. Clin Transl Sci 2012;5:259–64. Cross Ref link Pubmed link
454 Viljoen DL, Bloch C, Beighton P. Plastic surgery in pseudoxanthoma elasticum: experience in nine patients. Plast Reconstr Surg 1990;85:233–8. Cross Ref link Pubmed link
455 Verbraak FD. Antivascular endothelial growth factor treatment in pseudoxanthoma elasticum patients. Dev Ophthalmol 2010;46:96–106. Cross Ref link Pubmed link

Fibrodysplasia ossificans progressiva

456 Connor JM, Evans DAP. Fibrodysplasia ossificans progressiva: the clinical features and natural history of 34 patients. J Bone Joint Surg 1982;64:76–83.
457 Shore EM, Feldman GJ, Xu M, Kaplan FS. The genetics of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 2005;3:201–4. Cross Ref link
458 Shore EM, Xu M, Feldman GJ, Fenstermacher DA, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 2006;38:525–7. Cross Ref link Pubmed link
459 Petrie KA, Lee WH, Bullock AN, et al. Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. PLOS One 2009;4(3):e5005. Cross Ref link Pubmed link
460 Hebela N, Shore EM, Kaplan FS. Three pairs of monozygotic twins with fibrodysplasia ossificans progressiva: the role of environment in the progression of heterotopic ossification. Clin Rev Bone Miner Metab 2005;3:205–8. Cross Ref link
461 Cohen RB, Hahn GV, Tabas, JA, et al. The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva: a study of forty‐four patients. J Bone Joint Surg 1993;75A:215–19.
462 Shore EM, Kaplan FS. Fibrodysplasia ossificans progressive and progressive osseous heteroplasia. Clin Rev Bone Miner Metab 2005;3:257–9. Cross Ref link

Primary hypertrophic osteoarthropathy

463 Pineda C, Martínez‐Lavín M. Hypertrophic osteoarthropathy: what a rheumatologist should know about this uncommon condition. Rheum Dis Clin North Am 2013;39:383–400. Cross Ref link Pubmed link
464 Uppal, S, Diggle CP, Carr IM, et al. Mutations in 15‐hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nature Genet 2008;40:789–93. Erratum: Nature Genet 2008;40:927. Cross Ref link Pubmed link
465 Zhang Z, Xia W, He J, et al. Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet 2012;90:125–32. Cross Ref link Pubmed link
466 Seifert W, Kuhnisch J, Tuysuz B, et al. Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. Hum Mutat 2012;33:660–4. Cross Ref link Pubmed link
467 Diggle CP, Parry DA, Logan CV, et al. Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Hum Mutat 2012;33:1175–81. Cross Ref link Pubmed link
468 Girschick H. Orphanet http://www.orpha.net (last accessed January 2015).

Adermatoglyphia

469 Burger B, Fuchs D, Sprecher E, Itin P. The immigration delay disease: adermatoglyphia‐inherited absence of epidermal ridges. J Am Acad Dermatol 2011;64:974–80. Cross Ref link Pubmed link
470 Limova M, Blacker KL, LeBoit PE. Congenital absence of dermatoglyphs. J Am Acad Dermatol 1993;29:355–8). Cross Ref link Pubmed link
471 Baird HW. Absence of fingerprints in four generations. Lancet 1968;2:1250. Cross Ref link Pubmed link
472 Basan M. [Ectodermal dysplasia. Missing papillary pattern, nail disorders and furrows on 4 fingers.] Arch Klin Exp Dermatol 1965;222:546–57. Cross Ref link Pubmed link
473 Reed T, Schreiner RL. Absence of dermal ridge patterns: genetic heterogeneity. Am J Med Genet 1983;16:81–8. Cross Ref link Pubmed link
474 Lugassy J, Itin P, Ishida‐Yamamoto A, et al. Naegeli–Franceschetti–Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet 2006;79:724–30. Cross Ref link Pubmed link
475 Nousbeck J, Sarig O, Magal L, et al. Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation‐associated genes. Br J Dermatol 2014;171:1521–4. Cross Ref link Pubmed link
476 Lee CK, Chang CC, Johar A, Puwira O, Roshidah B. Fingerprint changes and verification failure among patients with hand dermatitis. JAMA Dermatol 2013;149:294–9. Cross Ref link
477 de Almeida HLJ, Caspary P, Duquia RP, Meijer R, van Steensel M. Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. Am J Med Genet A 2010;152A:2656–7. Cross Ref link Pubmed link

Lipoid proteinosis

478 Chan I, Liu L, Hamada T, Sethuraman G, McGrath JA. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol 2007;16:881–90. Cross Ref link Pubmed link
479 Hougenhouck‐Tulleken W, Chan I, Hamada T, et al. Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol 2004;151:413–23. Cross Ref link Pubmed link
480 Chan I, South AP, McGrath JA, et al. Rapid diagnosis of lipoid proteinosis using an anti‐extracellular matrix protein 1 (ECM1) antibody. J Dermatol Sci 2004;35:151–3. Cross Ref link Pubmed link
481 Hamada T, McLean WH, Ramsay M, et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002;11:833–40. Cross Ref link Pubmed link
482 Oyama N, Chan I, Neill SM, et al. Autoantibodies to extracellular matrix protein 1 in lichen sclerosus. Lancet 2003;362:118–23. Cross Ref link Pubmed link
483 Konstantinov K, Kabakchiev P, Karchev T, et al. Lipoid proteinosis. J Am Acad Dermatol 1992;27:293–7. Cross Ref link Pubmed link
484 Newton JA, Rasbridge S, Temple A, et al. Lipoid proteinosis: new immunopathological observations. Clin Exp Dermatol 1991;16:350–4. Cross Ref link Pubmed link
485 Caplan RM. Visceral involvement in lipoid proteinosis. Arch Dermatol 1967;95:149–55. Cross Ref link Pubmed link
486 Tewari A, Fassihi H, McGibbon D, et al. A case of extensive hyaline deposition in facial skin caused by erythropoietic protoporphyria. Br J Dermatol 2014;171:412–14. Cross Ref link Pubmed link
487 Siebert M, Markowitsch HJ, Bartel P. Amygdala, affect and cognition: evidence from 10 patients with Urbach–Wiethe disease. Brain 2003;126:2627–37. Cross Ref link Pubmed link
488 Bannerot H, Aubin F, Tropet Y, et al. Lipoid proteinosis: importance of dermabrasion. Apropos of a case. Ann Chir Plast Esthet 1998;43:78–81. Pubmed link
489 Rosenthal G, Lifshitz T, Monos T, et al. Carbon dioxide laser treatment for lipoid proteinosis (Urbach–Wiethe syndrome) involving the eyelids. Br J Ophthalmol 1997;81:253. Pubmed link
490 Wong CK, Lin CS. Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide. Br J Dermatol 1988;119:541–4. Cross Ref link Pubmed link
491 Ozkaya‐Bayazit E, Ozarmagan G, Baykal C, Ulug T. Oral DMSO therapy in three patients with lipoid proteinosis. Results of long‐term therapy. Hautarzt 1997;48:477–81. Cross Ref link Pubmed link
492 Gruber F, Manestar D, Stasic A, Grgurevic Z. Treatment of lipoid proteinosis with etretinate. Acta Derm Venereol (Stockh) 1996;76:154–5.
493 Bakry OA, Samaka RM, Houla NS, Basha MA. Two Egyptian cases of lipoid proteinosis successfully treated with acitretin. J Dermatol Case Rep 2014;31;8:29–34.
494 Kaya TI, Kokturk A, Tursen U, et al. D‐penicillamine treatment for lipoid proteinosis. J Eur Acad Dermatol Venereol 2002;16:286–8. Cross Ref link Pubmed link

Pterygium syndromes

495 Morgan NV, Brueton LA, Cox P, et al. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet 2006;79:390–5. Cross Ref link Pubmed link
496 Kondo S, Schutte BC, Richardson RJ, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nature Genet 2002;32:285–9 (Letter). Cross Ref link Pubmed link
497 Mitchell K, O'Sullivan J, Missero C, et al. Exome sequence identifies RIPK4 as the Bartsocas–Papas syndrome locus. Am J Hum Genet 2012;90:69–75. Cross Ref link Pubmed link
498 Veenstra‐Knol HE, Kleibeuker A, Timmer A, et al. Unreported manifestations in two Dutch families with Bartsocas–Papas syndrome. Am J Med Genet 2003;123A, 243–8. Cross Ref link Pubmed link

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Ehlers–Danlos syndrome

Prolidase deficiency

Osteogenesis imperfecta

Cutis laxa

Williams–Beuren syndrome

Michelin tyre baby

Marfan syndrome

Hyaline fibromatosis syndrome

Stiff skin syndrome

Winchester syndrome

Restrictive dermopathy

Progeria

Werner syndrome

Acrogeria

Familial mandibuloacral dysplasia

Mulvihill–Smith syndrome

Neonatal progeroid syndrome

Pseudoxanthoma elasticum

Fibrodysplasia ossificans progressiva

Primary hypertrophic osteoarthropathy

Adermatoglyphia

Lipoid proteinosis

Pterygium syndromes