Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).
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.
Krakowiak
P A
PA
Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112-5330, USA.
Bohnsack
J F
JF
Carey
J C
JC
Bamshad
M
M
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D001176:Arthrogryposis / Q000145:classification* / Q000235:genetics / Q000473:pathology*; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome