Raine syndrome: expanding the radiological spectrum.

Details

Serval ID
serval:BIB_4910A2AC435B
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Raine syndrome: expanding the radiological spectrum.
Journal
Pediatric radiology
Author(s)
Koob M., Doray B., Fradin M., Astruc D., Dietemann J.L.
ISSN
1432-1998 (Electronic)
ISSN-L
0301-0449
Publication state
Published
Issued date
03/2011
Peer-reviewed
Oui
Volume
41
Number
3
Pages
389-393
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Abstract
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.

Keywords
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
Create date
28/08/2017 14:34
Last modification date
20/08/2019 14:56
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