[The Freeman-Sheldon Syndrome].
Freeman-Sheldon syndrome (FSS) or craniocarpotarsal dysplasia is characterized by a triad of symptoms: 1. Masklike, whistling facial expression (whistling face syndrome), 2. Ulnar deviation of digits II to V and adduction contracture of the thumb and 3. Foot deformities. The pathogenesis of this malformation is unknown. Heredity is autosomal dominant and not sex-linked. Genetic counseling of affected individuals is imperative. The differential diagnosis should exclude the possibility of arthrogryposis multiplex congenita and particularly congenital windmill deformity of the fingers, which can also be accompanied by foot deformities. The foot and hand deformities associated with FSS are resistant to treatment and require consistent conservative and operative measures. Multiple, extensive operative interventions were unavoidable in both cases described.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome
Das Freeman-Sheldon-Syndrom.