透照性脊椎发育不全（DSD）的产前诊断：一例报告
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.
作者信息
Hofstaetter Cornelia, Courage Carolina, Bartholdi Deborah, Biskup Saskia, Raio Luigi
机构信息
Department of Obstetrics & Gynecology Inselspital University of Bern Switzerland.
Division of Human Genetics Department of Pediatrics Inselspital University of Bern Switzerland.
出版信息
Clin Case Rep. 2018 Jan 17;6(2):420-425. doi: 10.1002/ccr3.1368. eCollection 2018 Feb.
We present a case of diaphanospondylodysostosis (DSD) which showed increased nuchal translucency at 1st trimester and missing ossification of the lower spine, short ribs with posterior gaps, and absent nasal bone in midtrimester. Autopsy revealed additionally bilateral nephroblastomatosis. Molecular genetic analysis showed a new mutation in the BMPER gene.
我们报告一例透照性脊椎发育不全（DSD）病例，该病例在孕早期显示颈部半透明层增厚，孕中期显示下脊柱骨化缺失、肋骨短且后方有间隙以及鼻骨缺失。尸检还发现双侧肾母细胞瘤病。分子遗传学分析显示BMPER基因有一个新突变。
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