Jeune syndrome with neonatal cholestasis

Indian J Pediatr. 2011 Sep;78(9):1151-3. doi: 10.1007/s12098-011-0392-2. Epub 2011 Mar 3.

Abstract

Jeune syndrome or Asphyxiating Thoracic Dystrophy presenting clinically with hepatic manifestations is rarely seen. Very few cases of liver involvement have been reported antemortem. The authors report a three-month-old child with Jeune syndrome who presented with prolonged neonatal cholestasis and normal stools.

Publication types

  • Case Reports

MeSH terms

  • Cholestasis / etiology*
  • Ellis-Van Creveld Syndrome / complications*
  • Ellis-Van Creveld Syndrome / diagnosis
  • Humans
  • Infant
  • Male

Supplementary concepts

  • Jeune syndrome