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

TitleInner ear abnormalities in Kabuki make-up syndrome: report of three cases.
Publication TypeJournal Article
Year of Publication2000
AuthorsIgawa HH, Nishizawa N, Sugihara T, Inuyama Y
JournalAmerican journal of medical genetics
Volume92
Issue2
Pagination87-9
Date Published2000 May 15
Abstract

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.

Alternate JournalAm. J. Med. Genet.
Citation Key10797429