Title of article
LEMLI OPITZ SYNDROME: A CASE REPORT
Author/Authors
Ali, Saima Peshawar Medical College, Pakistan , Saffiullah Peshawar Medical College - Department of Pediatrics, Pakistan , Ali, Liaqat Hayatabad Medical Complex - Kidney Center, Pakistan
From page
34
To page
36
Abstract
A case of Smith-Lemli-Opitz syndrome is presented. One-year old child presented with febrile illness and was malnourished with all the threegrowth parameters below the 3rd percentile. He was blind since birth and had characteristic facial feature with broad nasal tip anteverted nostrils, micro-opthalmia, rowing eye movements, strabismus, epicanthic folds, long philtrum, low set ears, thin upper lip and oligodentia. Investigations showed cardiac abnormalities and serum cholesterol was 60mg/dl
Keywords
Smith , Lemli , Opitz syndrome , 7 , dehydrocholesterol , delta 7 , reductase , Congenital Anomalies
Journal title
KMUJ: Khyber Medical University Journal
Journal title
KMUJ: Khyber Medical University Journal
Record number
2666965
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