Cranial hyperostosis and hearing loss (a new syndrome?).
We present two patients, mother and daughter, with a skeletal disorder of the skull, hearing loss and in one of them recurrent facial paralysis. In one patient middle ear exploration was performed. The malleus and incus were found to be fixed in the epitympanum. The differential diagnosis is discussed. We reviewed all known hereditary conditions with hearing loss and musculoskeletal disease but we could not accept any of these diagnoses for our patients.
D000328:Adult; D002648:Child; D005260:Female; D006311:Hearing Disorders / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D012886:Skull / Q000000981:diagnostic imaging*; D013577:Syndrome; D014057:Tomography, X-Ray Computed