Histopathological basis of hearing impairment in Wolf-Hirschhorn syndrome.
OBJECTIVE
To perform histological examination of temporal bones acquired from an infant with Wolf-Hirschhorn syndrome with an emphasis on identifying abnormalities that might be responsible for hearing impairment in this disorder.


METHODS
Retrospective case review.


METHODS
Temporal bones were taken at autopsy from a 10-month-old infant with Wolf-Hirschhorn syndrome. The right-side temporal bone was studied by microdissection. The middle ear was examined, and the inner ear sensory organs dissected for study by light microscopy. The left-side temporal bone was embedded in celloidin, and sections were cut for microscopic examination.


RESULTS
Chronic otitis media was observed in both ears. Inflammation, effusion, and adhesions were present in the middle ear space. The malleus was malformed, and the chorda tympani nerve was found to pass through the bone of the malleus bilaterally. There was an area of sharply defined outer hair cell loss in the lower basal turn of the right-side organ of Corti, and defects were noted in the bone of the apical osseous spiral lamina in both cochleae.


CONCLUSIONS
In addition to the presence of otitis media, the likelihood of congenital abnormalities of the middle and inner ear should be considered in the assessment of patients with Wolf-Hirschhorn syndrome with hearing impairment.
Department of Otolaryngology--Head and Neck Surgery, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA.
Seckin O
SO
Ulualp
Charles G
CG
Wright
Karen S
KS
Pawlowski
Peter S
PS
Roland
D000015:Abnormalities, Multiple / Q000473:pathology; D002814:Chorda Tympani Nerve / Q000002:abnormalities / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000473:pathology; D002894:Chromosomes, Human, Pair 4; D007758:Ear, Inner / Q000002:abnormalities / Q000473:pathology; D004432:Ear, Middle / Q000002:abnormalities / Q000473:pathology; D006311:Hearing Disorders / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D010033:Otitis Media / Q000473:pathology; D013577:Syndrome; D013701:Temporal Bone / Q000473:pathology