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Inner ear abnormalities in Kabuki make-up syndrome: report of three cases
H H Igawa1, N Nishizawa, T Sugihara
1Department of Plastic and Reconstructive Surgery, Hokkaido University School of Medicine, Japan.
American Journal of Medical Genetics
|May 8, 2000
Summary
Kabuki make-up syndrome (KMS) patients often exhibit inner ear abnormalities, specifically Mondini dysplasia, affecting hearing. Early detection through CT scans is crucial for managing hearing loss in individuals with KMS.
Area of Science:
- Otolaryngology
- Genetics
- Pediatrics
Background:
- Kabuki make-up syndrome (KMS) is a rare genetic disorder.
- Inner ear abnormalities can impact hearing in individuals with KMS.
Observation:
- CT scans of three KMS patients (ages 14-28) revealed bilateral inner ear hypodysplasia (Mondini dysplasia).
- No middle ear abnormalities were observed in the patients.
Findings:
- Audiometry showed high-tone hearing loss in two patients.
- The observed inner ear malformations correlate with hearing deficits.
Implications:
- Routine audiological and inner ear imaging evaluations are recommended for KMS patients.
- Early identification of inner ear anomalies can guide timely intervention for hearing impairment.
