Smith-Lemli-Opitz syndrome: Case report and literature review

被引：1

作者：

Danzer, E ^{[1
]}

Schier, F ^{[1
]}

Giggel, S ^{[1
]}

Bondartschuk, M ^{[1
]}

机构：

[1] Univ Jena, Med Ctr, Dept Pediat Surg, D-07740 Jena, Germany

来源：

JOURNAL OF PEDIATRIC SURGERY | 2000年 / 35卷 / 12期

关键词：

Smith-Lemli-Opitz-syndrome;

D O I：

10.1053/jpsu.2000.19291

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The authors report the case of a 6-week-old boy with the Smith-Lemli-Opitz-syndrome (SLOS) and review the literature on the subject. intersexuality was suspected and a laparoscopy performed. Abnormalities of the gastrointestinal tract, the lower extremities, and the face prompted DNA analysis, which found a defect of cholesterol biosynthesis in the form of the Smith-Lemli-Opitz-syndrome, a rare congenital defect. The clinical course of this case is compared with similar cases in the literature. J Pediatr Surg 35:1840-1842. Copyright (C) 2000 by W.B. Saunders Company.

引用

页码：1840 / 1842

页数：3

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