An autosomal dominant inherited syndrome with congenital stapes ankylosis.
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.
Teunissen
B
B
Department of Otorhinolaryngology, University Hospital, Nijmegen, The Netherlands.
Cremers
W R
WR
D000328:Adult; D000844:Ankylosis / Q000150:complications / Q000151:congenital*; D002648:Child; D004429:Ear Ossicles / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D034381:Hearing Loss / Q000151:congenital*; D006314:Hearing Loss, Conductive / Q000151:congenital* / Q000235:genetics / Q000601:surgery; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013199:Stapes / Q000002:abnormalities*; D013201:Stapes Surgery; D013577:Syndrome; D014034:Toes / Q000002:abnormalities