Premium
Dyssegmental dysplasia, Silverman‐Handmaker type: prenatal ultrasound findings and molecular analysis
Author(s) -
Ladhani Noor Niyar N.,
Chitayat David,
Nezarati Marjan M.,
Laureane Mittaz Crettol,
Keating Sarah,
Silver Rachel J.,
Unger Sheila,
Velsher Lea,
Sirkin Wilma,
Toi Ants,
Glanc Phyllis
Publication year - 2013
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4193
Subject(s) - prenatal diagnosis , fetus , medicine , dysplasia , obstetrics , exon , pregnancy , ultrasound , genetics , biology , gene , radiology
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.