13三体综合征中的史密斯-勒米-奥皮茨综合征：这种组合是如何起作用的？
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
作者信息
Alkuraya Fowzan S, Picker Jonathan, Irons Mira B, Kimonis Virginia E
机构信息
Division of Genetics and Metabolism, Children's Hospital Boston, Harvard Medical School, MA 02115, USA.
出版信息
Birth Defects Res A Clin Mol Teratol. 2005 Aug;73(8):569-71. doi: 10.1002/bdra.20165.
BACKGROUND
Trisomy 13 and Smith-Lemli-Opitz syndrome (SLOS) are both well-recognized multiple congenital anomaly/mental retardation syndromes.
CASE
In this report we describe a male newborn with trisomy 13 who also has features of SLOS, such as 2/3 toe syndactyly and a shawl-like scrotum. Biochemical analysis was consistent with SLOS, and limited molecular analysis revealed 1 mutation in the DHCR7 gene.
CONCLUSIONS
The challenges in establishing the diagnosis of SLOS in this patient are presented and the unique coexistence of the 2 major malformation syndromes is discussed. Given the overlapping phenotype of the 2 syndromes, our report should encourage further research on cholesterol biosynthesis in patients with trisomy 13.
背景
13三体综合征和史密斯-勒米-奥皮茨综合征（SLOS）都是公认的多发性先天性异常/智力发育迟缓综合征。
病例
在本报告中，我们描述了一名患有13三体综合征的男婴，他还具有SLOS的特征，如2/3趾并指和披肩样阴囊。生化分析与SLOS一致，有限的分子分析显示DHCR7基因存在1个突变。
结论
介绍了该患者诊断SLOS的挑战，并讨论了这两种主要畸形综合征独特的共存情况。鉴于这两种综合征的重叠表型，我们的报告应鼓励对13三体综合征患者的胆固醇生物合成进行进一步研究。
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