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Case Rep Pediatr. 2014;2014:623926. doi: 10.1155/2014/623926. Epub 2014 Aug 5.

Smith-lemli-opitz syndrome: a case with annular pancreas.

Author information

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

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.

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