2. Academic Validation
  3. An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations

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.
L I Al-Gazali 1,  M Bakir,  O A Hamud,  S Gerami
Affiliations

Affiliation

  • 1 Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates. [email protected]
PMID: 11822703 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.

Figures