Zusammenfassung
Wenngleich Entwicklungsstörungen des Bewegungsapparates zu den relativ seltenen Erkrankungsformen gehören, sind sie ein wichtiger kausaler Schrittmacher von sog. Sekundärpathologien (beispielsweise Sekundärarthrose bei Hüftgelenksdysplasie).
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Beighton P, De Paepe A, Steinmann B et al (1998) Ehlers-Danlos syndromes:Revised nosology, Villefranche, 1997. Am J Med Genet 77:31–37
Byers PH, Cole WG (2002) Osteogenesis imperfecta. In: Royce PM, Steinmann B (Hrsg) Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects, 2. Aufl. Wiley-Liss Inc, New York, S 385–430
Caglayan AO, Dundar M (2009) Review. Inherited diseases and syndromes leading to aortic aneurysms and dissections. Eur J Cardio-thoracic Surg 35:931–940
Callewaert B, Malfait F, Loeys B et al (2008) Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol 22:165–189
Cox DW (2002) 1-Antitrypsin deficiency. In: Royce PM, Steinmann B (Hrsg) Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects, 2. Aufl. Wiley-Liss Inc, New York, S 745–763
Davidson JM, Giro MG (2002) Cutis laxa and premature aging syndromes. In: Royce PM, Seinmann B (Hrsg) Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects, 2. Aufl. Wiley-Liss Inc, New York, S 525–560
Dietz HC, Cutting GR, Pyeritz RE et al (1991) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352:337–338
Grahame R, Pyeritz RE (1995) The Marfan syndrome: Joint and skin manifestations are prevalent and correlated. Br J Rheumatol 34:126–131
Kaplan FS, Shore EM, Connor JM (2002) Fibrodysplasia ossificans progressive. In: Royce PM, Steinmann B (Hrsg) Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects, 2. Aufl. Wiley-Liss Inc, New York, S 827–840
Leroy JG (2002) Disorders of lysosomal enzymes: Clinical phenotypes. In: Royce PM, Steinmann B (Hrsg) Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects, 2. Aufl. Wiley-Liss Inc, New York, S 849–899
Loeys BL, Dietz HC, Bracermann AC et al (2010) The revised Ghent nosology for the Marfan syndrome. J Med Genet 47:476–485
Mao J-R, Bristow J (2001) The Ehlers-Danlos syndrome: on beyond collagens. J Clin Invest 107:1063–1069
Mayne R (2002) Morphology and chemical composition of connective tissue: The eye. In: Royce PM, Steinmann B (Hrsg) Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects, 2. Aufl. Wiley-Liss Inc, New York, S 145–157
McIntosh R, Merritt KK, Richards MR et al (1954) The incidence of congenital malformations: A study of 5,964 pregnancies. Pediatrics 14:505–522
McKusick VA (2002) Heritable disorders of connective tissue: A personal account of the origins, evolution, validation, and expansion of a concept. In: Royce PM, Steinmann B (Hrsg) Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects, 2. Aufl. Wiley-Liss Inc, New York, S 13–18
Milewicz DM, Grossfield J, Cao S-N et al (1995) A mutation in FBNI disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. J Clin Invest 95:2373–2378
Mohr W (2000) Gelenkpathologie. Historische Grundlagen, Ursachen und Entwicklungen von Gelenkleiden und ihre Pathomorphologie. Springer, Berlin
Pyeritz RE, Dietz HC (2002) Marfan syndrome and other microfibrillar disorders. In: Royce PM, Steinmann B (Hrsg) Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects, 2. Aufl. Wiley-Liss Inc, New York, S 585–626
Robinson PN, Booms P, Katzke S et al (2002) Mutations of FBNI and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutation 20:153–161
Rongish BJ, Drake CJ, Argraves WS et al (1998) Identification of the developmental marker, JB3-antigen, as fibrillin-2 and its de novo organization into embryonic microfibrous arrays. Dev Dynamics 212:461–471
Skovby F, Kraus JP (2002) The homocystinurias. In: Royce PM, Steinmann B (Hrsg) Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects, 2. Aufl. Wiley-Liss Inc, New York, S 627–650
Steinmann B, Royce PM, Superti-Furga A (2002) The Ehlers-Danlos syndrome. In: Royce PM, Steinmann B (Hrsg) Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects, 2. Aufl. Wiley-Liss Inc, New York, S 431–523
Suwairi WM, Warman ML (2002) Progressive pseudorheumatoid dysplasia. In: Royce PM, Steinmann B (Hrsg) Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects, 2. Aufl. Wiley-Liss Inc, New York, S 1107–1109
Suwairi WM, Warman ML (2002) Camptodactyly-arthopathy-Coxa vara-pericarditis syndrome. In: Royce PM, Steinmann B (Hrsg) Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects, 2. Aufl. Wiley-Liss Inc, New York, S 1111–1114
Tofts LJ, Elliott EJ, Munns C et al (2009) The differential diagnosis of children with joint hypermobility: a review of the literature. Pediatr Rheumatol 7:1–10
von der Mark K, Sorokin L (2002) Adhesive glycoproteins. In: Royce PM, Steinmann B (Hrsg) Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects, 2. Aufl. Wiley-Liss Inc, New York, S 293–328
Zhang H, Hu W, Ramirez F (1995) Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J Cell Biol 129:1165–1176
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Krenn, V., Mohr, W. (2016). Entwicklungsstörungen. In: Amann, K., Kain, R., Klöppel, G. (eds) Pathologie. Pathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-04566-0_30
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