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February 1971

Autosomal Recessive Deafness: Associated With Short Stature, Vitiligo, Muscle Wasting and Achalasia

Author Affiliations

Bronx, NY
From the Division of Otolaryngology (Drs. Rozycki and Ruben) and the Saul R. Korey Department of Neurology (Drs. Rapin and Spiro), Albert Einstein College of Medicine, Yeshiva University, Bronx, NY.

Arch Otolaryngol. 1971;93(2):194-197. doi:10.1001/archotol.1971.00770060280016

The family pedigree in this communication represents a new syndrome of deafness which is probably inherited as an autosomal recessive, as it was seen in two children in a family with a consanguineous marriage and with sporadic deafness in other parts of the family. The syndrome appears to consist of congenital deafness with profound sensorineural hearing loss, but with preserved vestibular apparatus, with associated findings including short stature, vitiligo, muscle wasting, and achalasia. In addition, minimal changes were found in the electroencephalogram and globulin levels, and the cephalin-cholesterol flocculation, and thymol turbidity test results were elevated.

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