Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome

Eur J Pediatr. 1984 Aug;142(3):201-3. doi: 10.1007/BF00442449.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Calcinosis / complications*
  • Calcinosis / genetics
  • Cartilage Diseases / complications*
  • Cartilage Diseases / genetics
  • Female
  • Fingers / abnormalities*
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics
  • Pulmonary Valve Stenosis / complications*
  • Pulmonary Valve Stenosis / genetics
  • Syndrome