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Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
- Source :
- American journal of medical genetics. 76(1)
- Publication Year :
- 1998
-
Abstract
- We describe the clinical characteristics of a provisionally unique form of distal arthrogryposis. The anomalies observed in affected individuals are more severe than those in distal arthrogryposis type 1 and are similar to but less dramatic than those described in distal arthrogryposis type 2A (Freeman-Sheldon syndrome). Consequently, we label this disorder distal arthrogryposis type 2B (DA2B). Affected individuals have vertical talus, ulnar deviation, severe camptodactyly, and a distinctive face characterized by a triangular shape, prominent nasolabial folds, downslanting palpebral fissures, small mouth, and a prominent chin. A gene for DA2B maps to chromosome 11p15.5. We suggest that DA2B is partly responsible for the clinical variability observed in Freeman-Sheldon syndrome.
Details
- ISSN :
- 01487299
- Volume :
- 76
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics
- Accession number :
- edsair.pmid..........03d5ba6674958e310f7f3285a8c8453a