Related Experiment Videos
[Stickler's syndrome or hereditary progressive arthro-ophthalmopathy]
A C De la Chapelle1, S Manouvrier, J P Dubos
1Service de pédiatrie et génétique médicale, Hôpital Claude-Huriez, CHRU, Lille, France.
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.