Progressive hearing loss in Goldenhar's syndrome.
A family with Goldenhar's syndrome is presented. The pattern of inheritance is autosomal dominant with incomplete penetrance. The mutant gene in question has variable phenotypic expressivity. Evidence of progressive hearing loss is reported. Congenital facial palsy is suggested to be a part of the syndrome.
D005158:Facial Paralysis / Q000150:complications; D005799:Genes, Dominant; D006053:Goldenhar Syndrome / Q000150:complications / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D010641:Phenotype