Brachydactyly type A1, B is an autosomal dominant disorder which genetic background remains to be determined. Characteristic is a shortage or even absence of middle phalanges of all digits. Patients exhibit a short stature and some other skeletal abnormalities.
Brachydactyly type A1 | |||
Brachydactyly type A1, A | |||
Brachydactyly type A1, B | |||
Brachydactyly type A1, C | |||
Brachydactyly type A1, D | |||
1. |
Armour CM et al. (2000) Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles. |
2. |
Armour CM et al. (2002) A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. |
3. |
OMIM.ORG article Omim 607004 |
4. |
Wikipedia article Wikipedia EN (Brachydactyly) |