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Laryngoscope. 1990 Apr;100(4):380-4.

An autosomal dominant inherited syndrome with congenital stapes ankylosis.

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  • 1Department of Otorhinolaryngology, University Hospital, Nijmegen, The Netherlands.


A newly recognized autosomal dominant inherited syndrome associated with congenital conductive deafness, hyperopia, 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 vertebrate are also an associated feature.

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