Takeuchi Kazuhiko, Kitano Masako, Sakaida Hiroshi, Masuda Sawako
Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Japan.
Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Japan.
Auris Nasus Larynx. 2017 Aug;44(4):493-497. doi: 10.1016/j.anl.2016.08.001. Epub 2016 Aug 21.
The objective of this paper was to describe the clinical and otological findings in multiple members of a family with congenital glaucoma, cardiac anomaly, and conductive hearing loss due to ossicular chain anomalies. We performed a retrospective review of the medical charts and otological materials of multiple members of the same family. Congenital glaucoma and hearing loss were inherited by the proband and her daughter, son, and mother, suggesting autosomal dominant inheritance. The son and daughter also showed atrial septal defects. Exploratory tympanotomies revealed anomalies of the long process of the incus in the proband and her daughter, and tympanoplasty improved hearing loss in both patients. This represents the first description of coexisting congenital glaucoma and conductive hearing loss due to ossicular chain anomalies in multiple members of a single family.
本文的目的是描述一个患有先天性青光眼、心脏异常以及因听骨链异常导致传导性听力损失的家族中多名成员的临床和耳科检查结果。我们对同一家庭中多名成员的病历和耳科资料进行了回顾性研究。先天性青光眼和听力损失由先证者及其女儿、儿子和母亲遗传，提示为常染色体显性遗传。儿子和女儿还表现出房间隔缺损。探查性鼓膜切开术发现先证者及其女儿的砧骨长突存在异常，鼓室成形术改善了两名患者的听力损失。这是首次对单个家族中多名成员共存先天性青光眼和因听骨链异常导致的传导性听力损失进行描述。
