Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family.
We present two siblings from a consanguineous Malaysian family with multiple skeletal abnormalities, anterior segment anomalies of the eye and early lethality. These features are consistent with a syndrome first described by Al-Gazali and we provide further delineation of the syndrome.
Thong
Meow-Keong
MK
Genetics Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia Department of Paediatrics, Sarawak General Hospital, Malaysia.
Chan
Lee-Gaik
LG
Ting
Hua-Sen
HS
D000328:Adult; D000869:Anterior Eye Segment / Q000002:abnormalities*; D001842:Bone and Bones / Q000002:abnormalities*; D003241:Consanguinity; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008296:Malaysia; D008297:Male; D035781:Siblings; D013577:Syndrome