Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas
نویسندگان
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.
منابع مشابه
Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.
Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory features typical of Smith-Lemli-Opitz syndrome. The Lys376ArgfsX37 mutation is a ...
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ورودعنوان ژورنال:
دوره 2014 شماره
صفحات -
تاریخ انتشار 2014