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Pilot Study of Familial Nonsyndromal Mondini Dysplasia

2014-07-23 21:56:51 | BioPortfolio

Summary

OBJECTIVES:

I. Determine the mode of inheritance of nonsyndromal Mondini inner ear dysplasia, an inner ear malformation causing deafness, vestibular dysfunction, and recurrent meningitis.

Description

PROTOCOL OUTLINE:

The parents of 1 family with known Mondini dysplasia are screened for the disorder using temporal bone computerized tomography without contrast. This information is used to determine the mode of inheritance.

Study Design

Primary Purpose: Screening

Conditions

Mondini Dysplasia

Location

University of Michigan Health Systems
Ann Arbor
Michigan
United States
48109

Status

Completed

Source

National Center for Research Resources (NCRR)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-07-23T21:56:51-0400

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Medical and Biotech [MESH] Definitions

An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)

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