Genetics and hearing loss: a review of Stickler syndrome.
Stickler syndrome is an autosomal dominant multisystem disease. The four most 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.
National Birth Defects Center, Waltham, Massachusetts 02154, USA. nowakgene@aol.com
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Nowak
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003240:Connective Tissue Diseases / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome