[Stickler's syndrome or hereditary progressive arthro-ophthalmopathy].
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.
De la Chapelle
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AC
Service de pédiatrie et génétique médicale, Hôpital Claude-Huriez, CHRU, Lille, France.
Manouvrier
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S
Dubos
J P
JP
Farriaux
J P
JP
D003638:Deafness / Q000503:physiopathology; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009069:Movement Disorders / Q000503:physiopathology; D010009:Osteochondrodysplasias / Q000235:genetics*; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000235:genetics; D013577:Syndrome; D013997:Time Factors
Le syndrome de Stickler ou arthro-ophtalmopathie progressive héréditaire.