Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.

Details

Serval ID
serval:BIB_353DE1EEE0B3
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
Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.
Journal
American Journal of Perinatology
Author(s)
Fayol L., Garcia P., Denis D., Philip N., Simeoni U.
ISSN
0735-1631 (Print)
ISSN-L
0735-1631
Publication state
Published
Issued date
2006
Peer-reviewed
Oui
Volume
23
Number
3
Pages
197-200
Language
english
Notes
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Abstract
A female infant presented with Adams-Oliver syndrome (AOS), intrauterine growth retardation, severe cutis marmorata telangiectatica congenita, bilateral congenital cataract, and periventricular lesions. The here-reported association of bilateral congenital cataract with AOS is original. Adams-Oliver syndrome is a genetic defect that causes a vasculopathy and leads to a variety of phenotypes. This observation further supports the current understanding of the physiopathology of AOS.
Keywords
Abnormalities, Multiple/diagnosis, Abnormalities, Multiple/pathology, Adult, Cataract/complications, Cataract/congenital, Diagnosis, Differential, Fatal Outcome, Female, Fetal Growth Retardation/diagnosis, Fetal Growth Retardation/pathology, Heart Diseases/complications, Heart Diseases/congenital, Humans, Infant, Newborn, Limb Deformities, Congenital/complications, Limb Deformities, Congenital/diagnosis, Pregnancy, Syndrome, Telangiectasis/complications, Telangiectasis/diagnosis, Ultrasonography, Prenatal
Pubmed
Web of science
Create date
22/02/2015 9:16
Last modification date
20/08/2019 13:22
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