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Elizabeth S. Ruppert, MD; Ellen Buerk, MD; Mary F. Pfordresher, MSW

Arch Otolaryngol. 1970;92(1):95-98.

Abstract
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.

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).

Footnotes
Accepted for publication Feb 18, 1970.

Reprint requests to the Department of Pediatrics, Ohio State University College of Medicine, Columbus, Ohio 43205 (Dr. Ruppert).

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