Proximal symphalangia and stapes ankylosis.
A father and his two sons had an autosomal-dominant syndrome of proximal symphalangia and conductive hearing loss. Exploratory tympanotomy revealed a congenitally fixed stapes and incus in the oldest boy. Surgical intervention resulted in normal hearing. To our knowledge, this is the first such histologic report of a stapes in this syndrome.
D000293:Adolescent; D000328:Adult; D000844:Ankylosis / Q000235:genetics* / Q000473:pathology; D004429:Ear Ossicles / Q000473:pathology; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D034381:Hearing Loss / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D008297:Male; D013199:Stapes / Q000473:pathology; D013201:Stapes Surgery; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*