[Freeman-Sheldon syndrome. Report of a case].

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 (FreemanSheldon 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.