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

نویسندگان

  • Mehmet Demirdöven
  • Hamza Yazgan
  • Mevlit Korkmaz
  • Arzu Gebeşçe
  • Alparslan Tonbul
چکیده

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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عنوان ژورنال:

دوره 2014  شماره 

صفحات  -

تاریخ انتشار 2014