title: Novel syndrome with conductive hearing loss and congenital glaucoma in three generations.
abstract: 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.
authors.affiliation: Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Japan. Electronic address: kazuhiko@clin.medic.mie-u.ac.jp.
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Takeuchi
authors.affiliation: Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Japan.
authors.forename: Masako
authors.initials: M
authors.lastname: Kitano
authors.affiliation: Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Sakaida
authors.affiliation: Department of Otorhinolaryngology, Mie National Hospital, Tsu, Japan.
authors.forename: Sawako
authors.initials: S
authors.lastname: Masuda
mesh_terms: D000328:Adult; D001301:Audiometry, Pure-Tone; D002675:Child, Preschool; D005190:Family; D005260:Female; D005901:Glaucoma / Q000151:congenital*; D006314:Hearing Loss, Conductive / Q000151:congenital* / Q000000981:diagnostic imaging / Q000503:physiopathology / Q000601:surgery; D006344:Heart Septal Defects, Atrial; D006801:Humans; D006972:Hypertelorism; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014433:Tympanoplasty
keywords: Atrial septal defect; Autosomal dominant inheritance; Axenfeld–Rieger syndrome; Congenital glaucoma; Ossicular chain anomalies