Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.
Détails
ID Serval
serval:BIB_3F3178F72A89
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
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.
Périodique
American Journal of Medical Genetics. Part A
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2007
Volume
143A
Numéro
24
Pages
3280-3285
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Résumé
Raine syndrome is an autosomal recessive condition with generalized osteosclerosis, characteristic facial dysmorphism and brain abnormalities including intracerebral calcifications. We report on a case with Raine syndrome born to nonconsanguineous couple and report the prenatal sonogram/MRI, the fetopathology, and neuropathology findings.
Mots-clé
Autopsy, Bone Diseases, Developmental, Bone and Bones/pathology, Brain/pathology, Facial Bones/pathology, Humans, Magnetic Resonance Imaging, Male, Nose/pathology, Osteosclerosis/diagnosis, Prenatal Diagnosis, Stillbirth, Syndrome
Pubmed
Web of science
Création de la notice
14/03/2011 16:08
Dernière modification de la notice
20/08/2019 13:36
Données d'usage
