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July 1970

Hereditary Hearing Loss With Saddle-Nose and Myopia

Author Affiliations

Columbus, Ohio
From the Department of Pediatrics, Ohio State University College of Medicine (Drs. Ruppert and Buerk); the Children's Hospital Research Foundation (Dr. Ruppert); and the Department of Social Service, Children's Hospital, Columbus, Ohio (Miss Pfordresher).

Arch Otolaryngol. 1970;92(1):95-98. doi:10.1001/archotol.1970.04310010121019

A father and daughter had sensorineural deafness in conjunction with a saddle-nose defect, severe myopia, and juvenile cataracts. The saddle-nose defect can be traced vertically in three preceding generations without the presence of detected auditory or visual defects. It is postulated that this syndrome is a genetic disease transmitted as an autosomal dominant with variable expressivity. Future reporting of other families will help to clarify the precise development of the auditory disorder and the genetic transmission.

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