CLINICAL ANALYSIS OF A VARIANT OF FREEMAN-SHELDON-SYNDROME (DA2B)

We describe the clinical characteristics of a provisionally unique for m of distal arthrogryposis. The anomalies observed in affected individ uals are more severe than those in distal arthrogryposis type 1 and ar e similar to but less dramatic than those described in distal arthrogr yposis type 2A (Freeman-Sheldon syndrome). Consequently, we label this disorder distal arthrogryposis type 2B (DA2B). Affected individuals h ave vertical talus, ulnar deviation, severe camptodactyly, and a disti nctive face characterized by a triangular shape, prominent nasolabial folds, downslanting palpebral fissures, small mouth, and a prominent c hin. 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. (C) 1998 Wiley-Liss, Inc.