Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis.

Details

Serval ID
serval:BIB_4A0CEC20AB54
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis.
Journal
Prenatal Diagnosis
Author(s)
Ladhani N.N., Chitayat D., Nezarati M.M., Laureane M.C., Keating S., Silver R.J., Unger S., Velsher L., Sirkin W., Toi A., Glanc P.
ISSN
1097-0223 (Electronic)
ISSN-L
0197-3851
Publication state
Published
Issued date
2013
Volume
33
Number
11
Pages
1039-1043
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
OBJECTIVES: The objective of this study is to describe the prenatal sonographic features and the results of DNA analysis on three fetuses with dyssegmental dysplasia, Silverman-Handmaker type (DD-SH).
METHODS: A retrospective review of three fetuses with confirmed DD-SH was conducted. The fetal ultrasound findings, the radiological characteristics, and the results of the mutation analysis of the heparan sulphate perlecan gene 2 (HSPG2) were reviewed.
RESULTS: There were three cases in two families with DD-SH diagnosed prenatally. The main prenatal ultrasound and the radiological features of DD-SH were severe limb shortening and vertebral segmentation and fusion defects (anisospondyly). The DNA analysis of the HSPG2 gene showed that the two affected fetuses in a nonconsanguineous family had a compound heterozygote for the c.646G > T transversion in exon 7 and a c.5788C > T transition in exon 46. The fetus born to the consanguineous couple had a homozygous mutation c.1356-27_1507 + 59del.
CONCLUSION: DD-SH can be diagnosed prenatally using fetal ultrasound as early as 13 weeks. Xrays and DNA analysis of the HSPG2 gene are important for the confirmation of the diagnosis and for the preimplantation and prenatal diagnosis in pregnancies at risk. © 2013 John Wiley & Sons, Ltd.
Pubmed
Web of science
Create date
17/11/2013 18:18
Last modification date
20/08/2019 13:57
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