Novel syndrome with conductive hearing loss and congenital glaucoma in three generations

作者：Takeuchi Kazuhiko^*; Kitano Masako; Sakaida Hiroshi; Masuda Sawako

来源：Auris Nasus Larynx, 2017, 44(4): 493-497.

DOI：10.1016/j.anl.2016.08.001

• Axenfeld Rieger syndrome
• Ossicular chain anomalies
• Congenital glaucoma
• Autosomal dominant inheritance
• Atrial septal defect

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.

• 出版日期2017-8