Brachydaktylie Typ C
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.
Gliederung
Referenzen:
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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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Robin NH et. al. (1997) Clinical and locus heterogeneity in brachydactyly type C. [^] |
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Polinkovsky A et. al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C. [^] |
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Everman DB et. al. (2002) The mutational spectrum of brachydactyly type C. [^] |
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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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None (1963) Inherited brachydactyly and hypoplasia of the bones of the extremities. [^] |
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Schwabe GC et. al. (2004) Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. [^] |
8. |
Yang W et. al. (2008) Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. [^] |
9. |
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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Galjaard RJ et. al. (2001) Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. [^] |
11. |
Debeer P et. al. (2001) Intrafamilial clinical variability in type C brachydactyly. [^] |
12. |
Fitch N et. al. (1979) Brachydactyly C, short stature, and hip dysplasia. [^] |
13. |
Ventruto V et. al. (1976) Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis. [^] |
14. |
Rowe-Jones JM et. al. (1992) Brachydactyly type C associated with shortening of the hallux. [^] |
15. |
Sanz J et. al. (1988) Type C brachydactyly transmitted through four generations. [^] |
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Robinson GC et. al. (1968) Hereditary brachydactyly and hip disease. Unusual radiological and dermatoglyphic findings in a kindred. [^] |
17. |
Baraitser M et. al. (1983) Recessively inherited brachydactyly type C. [^] |
18. |
Polymeropoulos MH et. al. (1996) Brachydactyly type C gene maps to human chromsome 12q24. [^] |