Familial Sensorineural Hearing Loss: A Correlative Study of Audiologic,Radiographic,and Vestibular Findings

Abstract

A multidisciplinary approach to the study of a family with autosomal dominant sensorineural hearing loss is presented. The affected family members underwent extensive clinical and laboratory evaluation. They were found to have various degrees of bilateral congenital inner ear anomalies as imaged by computed tomography. The degree of structural abnormalities in the inner ears correlated with the severity of hearing impairment. Vestibular testing revealed nonspecific abnormalities generally correlating with audiologic and radiographic findings. This report presents a unique form of sensorineural hearing loss not previously described and is the first in-depth clinical study of nonsyndromal “Mondini dysplasia” occurring in a family.

Keywords

autosomal dominant inheritance Mondini dysplasia sensorineural hearing loss

Get full access to this article

View all access options for this article.

References

Bergstrom

Hemenway

Downs

. A high risk registry to find congenital deafness. Otolaryngol Clin North Am 1971; 4: 369–99.

Koningsmark

Gorlin

. Genetic and metabolic deafness. Philadelphia, Pa: WB Saunders, 1976: 7–48.

Fraser

. Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness. Ann Hum Genet 1965; 29: 171–96.

Konigsmark

. Hereditary deafness in man. (First of three parts). N Engl J Med 1969; 281: 713–20.

Ormerod

. The pathology of congenital deafness. J Laryngol Otol 1960; 74: 919–50.

Suehiro

Sando

. Congenital anomalies of the inner ear. Introducing a new classification of labyrinthine anomalies. Ann Otol Rhinol Laryngol 1979; 88(suppl 59).

Jackler

Luxford

House

. Congenital malformations of the inner ear: A classification based on embryogenesis. Laryngoscope 1987; 97(suppl 40): 1–14.

Mondini

. Anatomica surdi nati sectó. De Bononiensi sci entarum et artium institute atque academia commentarii. Banoniar 1791; 7: 419–31.

Valvassori

Naunton

Lindsay

. Inner ear anomalies: Clinical and histopathological considerations. Ann Otol Rhinol Laryngol 1969; 78: 929–38.

10.

Curtin

Vignaud

Bar

. Anomaly of the facial canal in a Mondini malformation with recurrent meningitis. Radiology 1982; 144: 335–41.

11.

Schuknecht

. Mondini dysplasia. A clinical and pathological study. Ann Otol Rhinol Laryngol 1980; 89(suppl 65).

12.

Wildervanck

Hoeksema

Penning

. Radiological examination of the inner ear of deaf-mutes presenting the cervicooculo-acusticus syndrome. Acta Otolaryngol (Stockh) 1966; 61: 445–53.

13.

Johnsen

Larsen

Friis

Hougaard-Jensen

. Pendred's syndrome: Acoustic, vestibular and radiological findings in 17 unrelated patients. J Laryngol Otol 1987; 101: 1187–92.

14.

Ilium

. The Mondini type of cochlear malformation: A survey of the literature. Arch Otolaryngol 1972; 96: 305–11.