The Keutel syndrome. Report of a case and review of the literature

Pediatr Radiol. 1993;23(4):314-5. doi: 10.1007/BF02010925.

Abstract

A 2-month-old boy presented with cartilage calcification, brachytelephalangism, peripheral pulmonary stenosis, hearing loss, short stature and slight psychomotor delay. This case is similar to the two cases described by Keutel in 1972. Since then, four other cases have been reported; we report the seventh case and discuss the clinical findings and the incidence of the disease.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / diagnostic imaging
  • Bone and Bones / diagnostic imaging
  • Calcinosis / congenital
  • Calcinosis / diagnostic imaging
  • Cartilage / diagnostic imaging
  • Cartilage Diseases / congenital*
  • Cartilage Diseases / diagnostic imaging
  • Chondrodysplasia Punctata / diagnostic imaging
  • Constriction, Pathologic
  • Face / abnormalities
  • Humans
  • Infant
  • Male
  • Pulmonary Artery / abnormalities
  • Radiography
  • Syndrome