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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None (1963) Inherited brachydactyly and hypoplasia of the bones of the extremities. [^] |
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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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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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| 11. |
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Fitch N et. al. (1979) Brachydactyly C, short stature, and hip dysplasia. [^] |
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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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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. [^] |
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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. [^] |
