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

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

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

  • Publication Type: Article / Article
  • Volume: 23 Issue: 3
  • Publication Date: 2012
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.383-387
  • Keywords: Ritscher-Schinzel syndrome, Pulmonary hypertension, Respiratory problems, CARDIAC 3C SYNDROME, PHENOTYPE
  • Ankara University Affiliated: Yes

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.