Sensorineural deafness associated with recessive hypophosphataemic rickets.
Two pairs of siblings suffering from recessive hypophosphataemic rickets are presented, three members of which have some degree of sensorineural deafness and all of which have bilateral marked narrowing of the internal auditory canals. The biochemical explanation of the condition is discussed.
D000328:Adult; D003638:Deafness / Q000209:etiology*; D007758:Ear, Inner / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000150:complications*; D008297:Male; D010026:Osteosclerosis / Q000000981:diagnostic imaging; D011859:Radiography; D012279:Rickets / Q000150:complications*