Ensink R J, Cremers C W, Brunner H G
Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands.
Arch Otolaryngol Head Neck Surg. 1997 Jan;123(1):97-9. doi: 10.1001/archotol.1997.01900010107017.
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.
一名12岁女孩因遗传性中耳异常导致听力受损，通过镫骨切除术联合锤骨前庭固定术成功治愈。一个家族的三代人中，有几名成员存在杯状耳、拇指异常或缺失以及前臂骨骼畸形。确认其遗传模式为常染色体显性遗传。这些特征在一些先前描述的综合征中也有出现，但与泪腺耳齿指综合征最为相符。
