A Familial Hormonal Disorder Associated With Mental Deficiency, Deaf Mutism and Ataxia*

A Histologic Study of Nonmorphogenetic Forms of Hereditary Hearing Impairment

“…All of the affected children had similar clinical features: men¬ tal deficiency, deafness, ataxia, and underdeveloped sec¬ ondary sex characteristics. 40 Temporal Bone Findings.-The most impressive cochlear finding in this case was the almost complete absence of neuronal cell bodies in the spiral ganglion and the corre¬ sponding reduction in the number of nerve fibers leading to the organ of Corti. The stria vascularis and Reissner's membrane appeared relatively normal (Fig 10).…”

Ataxia-Deafness-Retardation Syndrome in Three Sisters

“…Richards and Rundie (1959) reported on five siblings from a consanguineous family, who in addition to rapidly progressive early ataxia, mental retardation and progressive hearing loss presented with poorly developed secondary sex characteristics and amenorrhoea in the female cases. Sexual steroids were low, and in two ofthe cases gonadal dysgenesis was detected post mortem (Sylvester 1972).…”

X‐linked motor‐sensory neuropathy type‐II with deafness and mental retardation: A new disorder

“…Satya-Murti [ 19791 described abnormal evoked auditory potentials in two males with type I1 HMSN whose results of audiometric studies were normal. Other X-linked neurologic diseases associated with deafness have been reasonably excluded in this study [Berman et al, 1975;Richards and Rundle, 1959;Simmonds et al, 19821. We hoped that electrophysiologic testing could help to identify clinically unaffected carriers of the gene. Although minor abnormalities were separately identified in women from this family, these were not consistant enough to be useful.…”