A PRETERM INFANT WITH PROLONGED RESPIRATORY PROBLEMS DUE TO RITSCHER-SCHINZEL SYNDROME


Yurttutan S., Oncel M. Y. , Yurttutan N., Altug N., Erdeve O., Dilmen U.

GENETIC COUNSELING, vol.23, no.3, pp.383-387, 2012 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 3
  • Publication Date: 2012
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.383-387

Abstract

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