A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly.
A new camptodactyly syndrome is described in a 16-year-old Sephardic Jewish girl consisting of unusual facies with multiple eye anomalies, short stature, scoliosis, and joint contractures. Parental consanguinity is suggestive of an autosomal recessive mode of inheritance, although a new autosomal dominant mutation cannot be excluded. Fourty-four syndromes associated with camptodactyly are summarized and reviewed.
D000293:Adolescent; D003241:Consanguinity; D003286:Contracture / Q000235:genetics*; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007557:Israel; D007592:Joint Diseases / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D012600:Scoliosis / Q000235:genetics*; D013577:Syndrome