An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations

Clin Dysmorphol. 2002 Jan;11(1):33-8. doi: 10.1097/00019605-200201000-00007.

Abstract

We report a consanguineous Arab family with four children affected with bifid nose associated with renal agenesis and variable degree of anorectal malformations. We suggest that the combination of abnormalities in these children represent a previously undescribed autosomal recessive syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology*
  • Child
  • Child, Preschool
  • Family Health
  • Fatal Outcome
  • Female
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities*
  • Nose / abnormalities*
  • Rectum / abnormalities*