Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome.
A 13-year-old slightly mentally retarded female is reported with diffuse calcification of the cartilage, brachytelephalangy, mixed hearing loss and peripheral pulmonary stenosis. The present observation confirms the existence of the Keutel syndrome as a distinct syndrome, with probable autosomal recessive inheritance.
D000293:Adolescent; D002114:Calcinosis / Q000150:complications* / Q000235:genetics; D002357:Cartilage Diseases / Q000150:complications* / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D011666:Pulmonary Valve Stenosis / Q000150:complications* / Q000235:genetics; D013577:Syndrome