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

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 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.

Niikawa–Kuroki (Kabuki) syndrome with congenital sensorineural deafness: Evidence for a wide spectrum of inner ear abnormalities

“…In three previous reports, sensorineural hearing loss was associated with inner ear abnormalities in patients with NKS [8][9][10]. In those reports, a dysplastic cochlea (so called Mondini dysplasia) associated with an enlarged vestibule has been described in four patients [8,9] and bilateral enlarged vestibular aqueduct was reported in another one [10].…”

“…Sensorineural hearing loss leading to congenital or prelingual deafness, however, has been a rare finding among persons diagnosed with NKS [8][9][10].…”

Inner ear dysplasia with agenesis of the corpus callosum

“…Interestingly, abnormalities of the corpus callosum and the inner ear have independently been described in patients with Kabuki syndrome [7,8]. However, to our knowledge, there is no reported case of inner ear dysplasia and agenesis of the corpus callosum occurring in the same patient.…”

Niikawa-Kuroki- (Kabuki-)Syndrom und Schwerh�rigkeit

“…Unter den beschriebenen Fehlbildungen sind Ohrfehlbildungen [5], Formanomalien des äußeren Ohres, aber auch anatomische Fehlbildungen des Mittelund Innenohres beschrieben.Bekannt ist bei diesem Syndrom das Vorliegen einer Innenohr-Dysplasie (Mondini, [5]) bei regelrecht angelegtem Mittelohr, was sich klinisch durch eine Hörbeeinträchtigung der hohen Frequenzen äußert, wie es bei unserer Patientin anamnestisch beschrieben wird. Eine Mondini-Dysplasie konn-123 85 x 240 mm H ie r s t e h t e in e A n z e ig e T h is is a n a d v e r t is e m e n t te in diesem Fall bei fehlender Zustimmung der Eltern zu einer CT-Untersuchung nicht nachgewiesen werden.…”