Rhizomelia with anal atresia and anophthalmia: a new syndrome?

Oezlem G., Elcin B., Ayfer U., Oguz A., Erdener O., Derya E.

CLINICAL DYSMORPHOLOGY, vol.17, no.1, pp.53-56, 2008 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 17 Issue: 1
  • Publication Date: 2008
  • Doi Number: 10.1097/mcd.0b013e3282ef9592
  • Journal Name: CLINICAL DYSMORPHOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.53-56
  • Keywords: anophthalmos, imperforate anus, rhizomeli, congenital abnormality
  • Dokuz Eylül University Affiliated: Yes

Abstract

We report a newborn who presented with an unreported combination of anophthalmia, anal atresia, rhizomelia, dextrocardia and corpus callosum agenesis. Clinical and postmortem findings did not match any previously described syndromes with the type of anomalies seen in this patient. We suggested that this combination of congenital malformations might represent a new syndrome.