Prenatal diagnosis of boomerang dysplasia.

Détails

ID Serval
serval:BIB_29682
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
Institution
Titre
Prenatal diagnosis of boomerang dysplasia.
Périodique
American journal of medical genetics. Part A
Auteur⸱e⸱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
Statut éditorial
Publié
Date de publication
2003
Peer-reviewed
Oui
Volume
122A
Numéro
2
Pages
148-154
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Résumé
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.
Mots-clé
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
Création de la notice
19/11/2007 13:27
Dernière modification de la notice
20/08/2019 14:09
Données d'usage