A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome

Genet Couns. 2012;23(3):383-7.

Abstract

Ritscher-Schinzel also known as cranio-cerebello-cardiac (3C) syndrome is a very rare clinical entity. The striking features of this syndrome are cerebellar, cardiac and craniofacial abnormalities. Life threatening features of this syndrome are generally associated with cardiac abnormalities. We here present prolonged respiratory problems due to pulmonary hypertension in a preterm baby with Ritscher-Schinzel syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / physiopathology
  • Bronchopulmonary Dysplasia / etiology*
  • Craniofacial Abnormalities / complications*
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / physiopathology
  • Dandy-Walker Syndrome / complications*
  • Dandy-Walker Syndrome / genetics
  • Dandy-Walker Syndrome / physiopathology
  • Female
  • Heart Septal Defects, Atrial / complications*
  • Heart Septal Defects, Atrial / genetics
  • Heart Septal Defects, Atrial / physiopathology
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Infant, Premature, Diseases
  • Respiratory Distress Syndrome, Newborn / complications
  • Respiratory Distress Syndrome, Newborn / etiology*

Supplementary concepts

  • 3C syndrome