Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.
Details
Serval ID
serval:BIB_3F3178F72A89
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
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.
Journal
American Journal of Medical Genetics. Part A
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Publication state
Published
Issued date
2007
Volume
143A
Number
24
Pages
3280-3285
Language
english
Notes
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Abstract
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.
Keywords
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
Create date
14/03/2011 17:08
Last modification date
20/08/2019 14:36
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