LEMLI OPITZ SYNDROME: A CASE REPORT

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