Smith-Lemli-Opitz Syndrome : A Case with Annular Pancreas

الملخص EN

Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism.

It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies.

This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancreas which is an unreported gastrointestinal abnormality.