A syndrome with mixed deafness, Mozart ear, middle and inner ear dysplasias.
A 10-year-old boy presenting a disorder of multiple malformations with an otologic component consisting of mixed deafness, Mozart ear, thin stapes, small oval window and agenesis of the semicircular canals, was studied. A comparative analysis of similar malformation-entities has permitted the delineation of a previously undescribed syndrome.
D000015:Abnormalities, Multiple; D002648:Child; D003638:Deafness / Q000151:congenital*; D004429:Ear Ossicles / Q000002:abnormalities*; D004431:Ear, External / Q000002:abnormalities*; D006801:Humans; D008297:Male; D013199:Stapes / Q000002:abnormalities*; D013577:Syndrome; D014722:Vestibule, Labyrinth / Q000002:abnormalities*