Fetal MR imaging of atelosteogenesis type II (AO-II).
Details
Serval ID
serval:BIB_349CB60DB21E
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
Fetal MR imaging of atelosteogenesis type II (AO-II).
Journal
Pediatric Radiology
ISSN
0301-0449 (Print)
ISSN-L
0301-0449
Publication state
Published
Issued date
2008
Peer-reviewed
Oui
Volume
38
Number
12
Pages
1345-1349
Language
english
Notes
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Abstract
The diastrophic dysplasia family of osteochondrodysplasias comprises a spectrum of skeletal diseases characterized by abnormal growth and remodelling of cartilage and bone. They are caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene. Different defects in this gene product give rise to the variety of phenotypes based on the level of residual transport capacity. We reported a case of a fetus with this spectrum, evaluated and diagnosed with fetal MRI.
Keywords
Abnormalities, Multiple/pathology, Adult, Female, Fetal Diseases/pathology, Humans, Magnetic Resonance Imaging/methods, Osteochondrodysplasias/pathology, Pregnancy, Prenatal Diagnosis/methods, Stillbirth
Pubmed
Web of science
Create date
20/06/2015 13:06
Last modification date
20/08/2019 14:21
Usage data
