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Beatriz Arellano, MD; Rafael Ramírez Camacho, MD, PhD; Jose Ramon García Berrocal, MD, PhD; Manuela Villamar, PhD; Ignacio del Castillo, PhD; Felipe Moreno, PhD

Arch Otolaryngol Head Neck Surg. 2000;126:1065-1069.

Objective  To study a family with inner ear malformations and sensorineural hearing loss.

Design  Clinical, radiological, and genetic study of the members of a family with different degrees of sensorineural hearing loss.

Results  The males in the family manifested profound congenital hearing loss with severe inner ear malformations, while the only affected female had progressive hearing loss that had begun during puberty. Computed tomography showed inner ear malformations in both males, with enlarged internal auditory meatus and Mondini dysplasia. Genetic analysis disclosed a microdeletion at the locus DFN3 on chromosome X.

Conclusion  A familial Mondini dysplasia is associated to a microdeletion at the deafness locus DFN3.

From the Servicio de Otorrinolaringología, Clínica Puerta de Hierro (Drs Arellano, Ramírez Camacho, and García Berrocal), and Unidad de Genética Molecular, Hospital Ramón y Cajal (Drs Villamar, del Castillo, and Moreno), Madrid, Spain.

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