Genetics and hearing loss: A review of Stickler syndrome

Journal/Book: J Commun Disord. 1998; 31: 655 Avenue of the Americas, New York, NY 10010. Elsevier Science Inc. 437-454.

Abstract: Stickler syndrome is an autosomal dominant multisystem disease. The four mast affected systems are craniofacial, skeletal, ocular, and auditory. The manifestations of Stickler syndrome vary considerably among affected individuals. Audiologists and speech-language pathologists should be familiar with the characteristics associated with Stickler syndrome to facilitate early identification and appropriate management.

Note: Article Nowak CB, Natl Birth Defects Ctr, 40 2ND Ave, Suite 520, Waltham,MA 02154 USA

Keyword(s): arthritis; cleft palate; myopia; retinal degeneration; II PROCOLLAGEN GENE; HEREDITARY ARTHROOPHTHALMOPATHY; RETINAL-DETACHMENT; COL2A1 GENE; MUTATION; MARSHALL; HETEROGENEITY; DIAGNOSIS; PHENOTYPE; CHILDREN

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