Prenatal diagnosis of boomerang dysplasia.

Details

Serval ID
serval:BIB_29682
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
Prenatal diagnosis of boomerang dysplasia.
Journal
American journal of medical genetics. Part A
Author(s)
Wessels M.W., Den Hollander N.S., De Krijger R.R., Bonafé L., Superti-Furga A., Nikkels P.G., Willems P.J.
ISSN
1552-4825
Publication state
Published
Issued date
2003
Peer-reviewed
Oui
Volume
122A
Number
2
Pages
148-154
Language
english
Notes
Publication types: Case Reports ; Journal Article
Abstract
Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound.
Keywords
Bone Diseases, Developmental/pathology, Bone Diseases, Developmental/radiography, Female, Fetal Death, Genes, Lethal, Gestational Age, Humans, Pregnancy, Prenatal Diagnosis, Ultrasonography, Prenatal
Pubmed
Web of science
Create date
19/11/2007 13:27
Last modification date
20/08/2019 14:09
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