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

✍ Scribed by Igawa, Hiroharu H.; Nishizawa, Noriko; Sugihara, Tsuneki; Inuyama, Yukio

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 30 KB
Volume: 92
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000515)92:2<87::aid-ajmg1>3.0.co;2-g

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✦ Synopsis

Three patients, a female and two males, 28, 15, and 14 years of age, with Kabuki makeup syndrome (KMS) were studied for middle and inner ear abnormalities by using CT scanning of the petrous bones. All three patients had bilateral dysplasia of the inner ear, i.e., hypodysplasia of the cochlea, vestibule, and semicircular canals (so-called Mondini dysplasia), 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.

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