Middle ear deformity in arthrogryposis multiplex congenita.
Arthrogryposis multiplex congenita (AMC) is a rare congenital syndrome consisting of two or more joint contractures in different parts of the body. Otolaryngological abnormalities have been previously described in a significant proportion of cases. However, to date, the only frequent otologic deformity recorded in the published literature has been low-set ears. We present a case with a combination of AMC and a bilateral conductive hearing loss due to an unusual middle ear deformity. To our knowledge, no such case has been previously reported.
Quinn
S J
SJ
ENT Department, Charing Cross Hospital, London, England.
Bleach
N R
NR
Richards
A E
AE
D000328:Adult; D001176:Arthrogryposis / Q000473:pathology*; D004429:Ear Ossicles / Q000002:abnormalities; D004432:Ear, Middle / Q000002:abnormalities*; D005260:Female; D006312:Hearing Loss, Bilateral / Q000209:etiology; D006314:Hearing Loss, Conductive / Q000209:etiology; D006801:Humans