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.
Arch Otolaryngol Head Neck Surg. 1997;123:97-99
Ensink RJH, Cremers CWRJ, Brunner HG. Congenital Conductive Hearing Loss in the Lacrimoauriculodentodigital Syndrome. Arch Otolaryngol Head Neck Surg. 1997;123(1):97–99. doi:10.1001/archotol.1997.01900010107017
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