The Nagar syndrome (acrofacial dysostosis): evidence for autosomal dominant inheritance.
A 10-year-old girl with the Nagar acrofacial dysostosis syndrome and normal intelligence is presented. Severe conductive hearing loss remains the major handicap. It is suggested that her syndrome is due to a dominant gene mutation.
D002648:Child; D005260:Female; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital; D006311:Hearing Disorders / Q000209:etiology; D006801:Humans; D007360:Intelligence; D008342:Mandibulofacial Dysostosis / Q000150:complications / Q000235:genetics*; D009154:Mutation; D010375:Pedigree