An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.
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.
Al-Gazali
L I
LI
Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates. algazali@hotmail.com
Bakir
M
M
Hamud
O A
OA
Gerami
S
S
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D009666:Nose / Q000002:abnormalities*; D012007:Rectum / Q000002:abnormalities*