Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Die Brachydaktylie vom Haws Typ ist eine autosomal dominante Erkrankung, die durch Mutationen im GDF5-Gen hervorgerufen wird. Charakteristisch ist die Verkürzung der Proximal- und Mittelphalangen mit Hypersegmentation. Der Ringfinger bleibt meist ausgespart und überragt alle Finger. Selten sind auch Kleinwuchs sind weitere Skelettabnormalitäten zu beobachten.
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Robinson GC et al. (1968) Hereditary brachydactyly and hip disease. Unusual radiological and dermatoglyphic findings in a kindred.
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Sanz J et al. (1988) Type C brachydactyly transmitted through four generations.
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Rowe-Jones JM et al. (1992) Brachydactyly type C associated with shortening of the hallux.
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Ventruto V et al. (1976) Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.
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Debeer P et al. (2001) Intrafamilial clinical variability in type C brachydactyly.
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Galjaard RJ et al. (2001) Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone.
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Lehmann K et al. (2006) A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
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Storm EE et al. (1994) Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily.
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Yang W et al. (2008) Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.
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Schwabe GC et al. (2004) Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.
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None (1963) Inherited brachydactyly and hypoplasia of the bones of the extremities.
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Savarirayan R et al. (2003) Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.
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Polinkovsky A et al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C.
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| 19. |
Orphanet article Orphanet ID 93384
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OMIM.ORG article Omim 113100
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| 21. |
Wikipedia Artikel Wikipedia DE (Brachydaktylie_Typ_C)
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