Fetal MR imaging of atelosteogenesis type II (AO-II).

Détails

ID Serval
serval:BIB_349CB60DB21E
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Fetal MR imaging of atelosteogenesis type II (AO-II).
Périodique
Pediatric Radiology
Auteur⸱e⸱s
Miller E., Blaser S., Miller S., Keating S., Thompson M., Unger S., Toi A., Berger H., Chong K.
ISSN
0301-0449 (Print)
ISSN-L
0301-0449
Statut éditorial
Publié
Date de publication
2008
Peer-reviewed
Oui
Volume
38
Numéro
12
Pages
1345-1349
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Résumé
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.
Mots-clé
Abnormalities, Multiple/pathology, Adult, Female, Fetal Diseases/pathology, Humans, Magnetic Resonance Imaging/methods, Osteochondrodysplasias/pathology, Pregnancy, Prenatal Diagnosis/methods, Stillbirth
Pubmed
Web of science
Création de la notice
20/06/2015 13:06
Dernière modification de la notice
20/08/2019 14:21
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