Brachydaktylie
Unter Brachydaktylie wird die angeborene Verkürzung von Fingern und Zehen verstanden. Die Vererbung dieser Abnormalität ist dominant. Die Erkrankungsgruppe ist pathogenetisch und morphologisch recht heterogen.
Gliederung
Referenzen:
| 1. |
Dathe K et. al. (2009) Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. [^] |
| 2. |
Su P et. al. (2011) A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. [^] |
| 3. |
Polinkovsky A et. al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C. [^] |
| 4. |
Everman DB et. al. (2002) The mutational spectrum of brachydactyly type C. [^] |
| 5. |
Savarirayan R et. al. (2003) Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. [^] |
| 6. |
None (1963) Inherited brachydactyly and hypoplasia of the bones of the extremities. [^] |
| 7. |
Schwabe GC et. al. (2004) Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. [^] |
| 8. |
Seemann P et. al. (2005) Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. [^] |
| 9. |
Plöger F et. al. (2008) Brachydactyly type A2 associated with a defect in proGDF5 processing. [^] |
| 10. |
Yang W et. al. (2008) Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. [^] |
| 11. |
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. [^] |
| 12. |
Cuevas-Sosa A et. al. (1971) Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome. [^] |
| 13. |
None (1968) Familial absence of middle phalanges with nail dysplasia: a new syndrome. [^] |
| 14. |
Ohzeki T et. al. (1993) Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother. [^] |
| 15. |
Williams KD et. al. (2007) Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal. [^] |
| 16. |
Galjaard RJ et. al. (2001) Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. [^] |
| 17. |
Debeer P et. al. (2001) Intrafamilial clinical variability in type C brachydactyly. [^] |
