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Autosomal dominant inheritance of conductive deafness due to stapedial anomalies, external ear malformations and congenital facial palsy
Author(s) -
Sellars Sean,
Beighton Peter
Publication year - 1983
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1983.tb00449.x
Subject(s) - medicine , conductive hearing loss , facial paralysis , audiology , palsy , middle ear , autosomal recessive inheritance , hearing loss , anatomy , biology , surgery , genetics , pathology , alternative medicine , gene
Three siblings of Indian stock had profound bilateral conductive deafness with variable malformations of the external ears, stapedial abnormalities and facial paralysis. Their mother was similarly affected and inheritance of this private syndrome is evidently autosomal dominant. Some improvement of auditory function was obtained by surgical intervention in the middle ear.