Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.

Details

Serval ID
serval:BIB_E21E9F6AF726
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
Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.
Journal
European Journal of Medical Genetics
Author(s)
Rieubland C., Jacquemont S., Mittaz L., Osterheld M.C., Vial Y., Superti-Furga A., Unger S., Bonafé L.
ISSN
1878-0849 (Electronic)
ISSN-L
1769-7212
Publication state
Published
Issued date
2010
Peer-reviewed
Oui
Volume
53
Number
5
Pages
294-298
Language
english
Notes
Publication types: Case Reports ; Journal Article
Abstract
Dyssegmental dysplasia, Silverman-Handmaker type (DDSH; #MIM 224410) is an autosomal recessive form of lethal dwarfism characterized by a defect in segmentation and fusion of vertebral bodies components ("anisospondyly") and by severe limb shortening. It is caused by mutations in the perlecan gene (HSPG2), but so far, only three molecularly confirmed cases have been reported. We report a novel case of DDSH in a fetus that presented at 15 weeks gestation with encephalocele, severe micromelic dwarfism and narrow thorax. After termination of pregnancy, radiographs showed short ribs, short and bent long bones and anisospondyly of two vertebral bodies. The fetus was homozygous for a previously undescribed null mutation in HSPG2.
Keywords
Abnormalities, Multiple/genetics, Dwarfism/genetics, Encephalocele/genetics, Female, Heparan Sulfate Proteoglycans/genetics, Humans, Meningocele/genetics, Osteochondrodysplasias/genetics, Point Mutation, Pregnancy
Pubmed
Web of science
Create date
16/07/2010 16:45
Last modification date
20/08/2019 17:06
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