Seckel syndrome associated with atrioventricular canal defect: a case report

Ucar B., Kilic Z., DİNLEYİCİ E. Ç., Yakut A., Dogruel N.

CLINICAL DYSMORPHOLOGY, vol.13, no.1, pp.53-55, 2004 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 1
  • Publication Date: 2004
  • Doi Number: 10.1097/00019605-200401000-00017
  • Journal Name: CLINICAL DYSMORPHOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.53-55
  • Keywords: cardiac malformations, Seckel syndrome, atrioventricular canal defect
  • Eskisehir Osmangazi University Affiliated: Yes

Abstract

Seckel syndrome is a rare autosomal recessive disorder and its characteristic features are marked growth and mental retardation, significant microcephaly and a convex nose. We report a boy with this syndrome who also had severe cardiac anomalies. Although his parents were non-consanguineous, it is suggested that he had autosomal recessive inheritance.