Raine syndrome: expanding the radiological spectrum.

Détails

ID Serval
serval:BIB_4910A2AC435B
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
Raine syndrome: expanding the radiological spectrum.
Périodique
Pediatric radiology
Auteur⸱e⸱s
Koob M., Doray B., Fradin M., Astruc D., Dietemann J.L.
ISSN
1432-1998 (Electronic)
ISSN-L
0301-0449
Statut éditorial
Publié
Date de publication
03/2011
Peer-reviewed
Oui
Volume
41
Numéro
3
Pages
389-393
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Résumé
We describe ante- and postnatal imaging of a 1-year-old otherwise healthy girl with Raine syndrome. She presented with neonatal respiratory distress related to a pyriform aperture stenosis, which was diagnosed on CT. Signs of chondrodysplasia punctata, sagittal vertebral clefting and intervertebral disc and renal calcifications were also found on imaging. This new case confirms that Raine syndrome is not always lethal. The overlapping imaging signs with chondrodysplasia punctata and the disseminated calcifications give new insights into its pathophysiology.

Mots-clé
Abnormalities, Multiple/diagnostic imaging, Cleft Palate/diagnostic imaging, Exophthalmos/diagnostic imaging, Female, Humans, Infant, Microcephaly/diagnostic imaging, Osteosclerosis/diagnostic imaging, Radiography
Pubmed
Web of science
Création de la notice
28/08/2017 14:34
Dernière modification de la notice
20/08/2019 14:56
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