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Case Reports in Pediatrics
Volume 2014, Article ID 623926, 3 pages
http://dx.doi.org/10.1155/2014/623926
Case Report

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

1Department Of Pediatrics, School Of Medicine, Fatih University, Turkey
2Fatih Üniversitesi Tıp Fakültesi, Sahil Yolu Sokak No. 16 Dragos Maltepe, 34844 Istanbul, Turkey
3Department Of Pediatrics Surgery, School Of Medicine, Fatih University, Turkey

Received 14 May 2014; Accepted 26 June 2014; Published 5 August 2014

Academic Editor: William B. Moskowitz

Copyright © 2014 Mehmet Demirdöven et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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.