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[Stickler's syndrome or hereditary progressive arthro-ophthalmopathy].

Authors :
De la Chapelle AC
Manouvrier S
Dubos JP
Farriaux JP
Source :
Pediatrie [Pediatrie] 1988; Vol. 43 (4), pp. 305-7.
Publication Year :
1988

Abstract

A case of Stickler's syndrome is reported. This syndrome associates eye defects, craniofacial and musculo-skeletal abnormalities, sensori-neural hearing loss and mitral-valve prolapse. It is an autosomal dominant disorder probably resulting from a connective tissue dysplasia. There is a major risk for the occurrence of serious ocular problems (blindness), and ophthalmologic follow-up has to be performed on affected persons and relatives in order to improve the long term prognosis.

Details

Language :
French
ISSN :
0031-4021
Volume :
43
Issue :
4
Database :
MEDLINE
Journal :
Pediatrie
Publication Type :
Academic Journal
Accession number :
3419872