Mental retardation, iris coloboma, optic atrophy and distinctive facial appearance in two sibs.
We report an inbred Arab family from the United Arab Emirates with two children affected with mental retardation, iris coloboma, optic atrophy, nystagmus, and a distinctive facial appearance. This includes a long narrow face, downslanting palpebral fissures, a narrow nose with hypoplasia of the alae nasi, a small philtrum and a thin upper lip. We suggest that the combination of abnormalities in these children represents 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.
D003103:Coloboma; D003241:Consanguinity; D019066:Facies; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D007498:Iris / Q000002:abnormalities*; D008297:Male; D009679:Nuclear Family; D009896:Optic Atrophy