Congenital conductive hearing loss in the lacrimoauriculodentodigital syndrome.
An inherited middle ear anomaly that was causing hearing impairment in a 12-year-old girl was treated successfully by a stapedotomy combined with a malleovestibulopexy. Cup-shaped ears, abnormal or absent thumbs, and skeletal deformities of the forearms were present in several members of 3 generations of a family. An autosomal dominant pattern of inheritance was recognized. These features are present in a number of previously described syndromes, but they correspond best with the lacrimoauriculodentodigital syndrome.
Ensink
R J
RJ
Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands.
Cremers
C W
CW
Brunner
H G
HG
D000015:Abnormalities, Multiple; D002648:Child; D004429:Ear Ossicles / Q000601:surgery; D005260:Female; D006314:Hearing Loss, Conductive / Q000151:congenital* / Q000601:surgery*; D006801:Humans; D013577:Syndrome