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An autosomal dominant inherited syndrome with congenital stapes ankylosis
Author(s) -
Teunissen Bert,
Cremers Cor W. R. J.
Publication year - 1990
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1288/00005537-199004000-00009
Subject(s) - stapedectomy , incus , stapes , ankylosis , medicine , syndactyly , conductive hearing loss , anatomy , phalanx , malleus , orthodontics , audiology , otosclerosis , middle ear
A newly recognized autosomal dominant inherited syndrome associated with congenital conductive deafness, hy‐peropia, broad thumbs, broad first toes, short distal phalanges, and syndactyly is reported. The conductive loss was the result of congenital stapes ankylosis and, in two cases, was associated with ankylosis of the short process of the incus in the fossa incudis. Stapedectomy improved hearing in these patients. Fused cervical vertebrae are also an associated feature.