Freeman-Sheldon syndrome: report of 6 cases

Freeman-Sheldon syndrome is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and joint contractures with characteristic facies. FSS (Freeman-Sheldon Syndrome) is also known as craniocarpotarsal dysplasia (or dystrophy), distal arthrogryposis type IIA (DAIIA), whistling face syndrome, and whistling face-windmill vane hand syndrome. The syndrome is an autosomal dominant trait and characterized by flattened, mask-like facies, microstomia, protruding lips (as in whistling), deep-set eyes with hypertelorism, and camptodactyly with ulnar deviation of the fingers and talipes equinovarus. We are reporting 6 cases with this syndrome that were referred to our genetic center from 2000 to 2006 for cytogenetic study and clinical genetic counseling.