Inner ear abnormalities in Kabuki make-up syndrome: report of three cases.

Three patients, a female and two males, 28, 15, and 14 years of age, with Kabuki make-up syndrome (KMS) were studied for middle and inner ear abnormalities by using CT scanning of the petrous bones. All three patients had bilateralⁱ dysplasiaⁱ of the inner ear, i.e., hypodysplasia of the cochleaⁱ, vestibule, and semicircular canals (so-called Mondini dysplasiaⁱ), whereas their middle ears had no abnormalities. Audiometry demonstrated a sharp decrease in hearing of the high tone range, bilateral in one and unilateral in another, while the third patient was noncooperative. In view of these findings, it would be advisable to study each individual with KMS and hearing impairment for possible inner ear abnormalities.