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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.

DOI:10.1002/ccr3.1368
PMID:29445489
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5799658/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e22/5799658/4875c31dfa1e/CCR3-6-420-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e22/5799658/b07938adfdaa/CCR3-6-420-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e22/5799658/4875c31dfa1e/CCR3-6-420-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e22/5799658/b07938adfdaa/CCR3-6-420-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e22/5799658/4875c31dfa1e/CCR3-6-420-g002.jpg

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本文引用的文献

1
Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics.伴有透骨膜骨发育不良（DSD）的长期生存：存活至 5 年及进一步的表型特征。
Am J Med Genet A. 2012 Jun;158A(6):1447-51. doi: 10.1002/ajmg.a.35352. Epub 2012 May 11.
2
Development of anaplastic Wilms tumor and subsequent relapse in a child with diaphanospondylodysostosis.一名患有透明性脊椎发育不全的儿童发生间变性肾母细胞瘤并随后复发。
J Pediatr Hematol Oncol. 2012 Oct;34(7):548-51. doi: 10.1097/MPH.0b013e3182465b58.
3
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).
BMPER 基因中的有害突变导致先天性脊柱骨骺发育不良（DSD）。
Am J Med Genet A. 2011 Nov;155A(11):2801-6. doi: 10.1002/ajmg.a.34240. Epub 2011 Oct 11.
4
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.通过祖先同源性纯合分析和靶向高通量测序鉴定出 diaphanospondylodysostosis 中的 BMPER 突变。
Am J Hum Genet. 2010 Oct 8;87(4):532-7. doi: 10.1016/j.ajhg.2010.08.015.
5
Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.透照性脊椎发育不全：6例新病例及候选基因PAX1和MEOX1的排除
Am J Med Genet A. 2007 Oct 1;143A(19):2292-302. doi: 10.1002/ajmg.a.31934.
6
Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis.透照性脊椎发育不全（DSD）：一种具有异常椎体骨化和肾母细胞瘤病的隐性疾病的确证
Am J Med Genet A. 2005 Aug 1;136A(4):373-6. doi: 10.1002/ajmg.a.30537.
7
A newly recognized autosomal recessive syndrome with abnormal vertebral ossification, rib abnormalities, and nephrogenic rests.
Am J Med Genet A. 2003 Jul 30;120A(3):386-8. doi: 10.1002/ajmg.a.20097.
8
Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester.成骨不全及其他在孕早期表现为颈项透明层增厚的骨骼发育异常。
Am J Med Genet. 2001 Jan 15;98(2):117-20.