PMID: 5173352Mar 1, 1971Paper

Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness

Birth Defects Original Article Series
W E Nance, A Sweeney

Abstract

A four-year-old Caucasian male with well-documented renal tubular acidosis, first noted in early infancy, was found to have profound hearing loss causing delayed speech development. The parents were first cousins, and three male half-sibs, each by a different father, were not affected. The findings suggest that the syndrome of renal tubular acidosis with deafness is a distinct nosologic entity that is determined by an autosomal recessive gene.

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.