Seckel syndrome associated with atrioventricular canal defect: a case report

Clin Dysmorphol. 2004 Jan;13(1):53-5. doi: 10.1097/00019605-200401000-00017.

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.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Adolescent
  • Face / abnormalities*
  • Facies
  • Genes, Recessive
  • Hand Deformities, Congenital / diagnosis
  • Heart Septal Defects, Atrial / diagnosis*
  • Heart Septal Defects, Ventricular / diagnosis*
  • Humans
  • Intellectual Disability / diagnosis*
  • Male
  • Microcephaly / diagnosis*
  • Syndrome

Associated data

  • OMIM/210600