Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

We present the case of a mother and four children displaying signs of Multiple Synostosis Syndrome (SYNS1) associated with conductive hearing loss. The intra-familial phenotypic variation is due to variable penetrance, which is typical of this syndrome. The child with the most significant hearing loss showed lucency of the otic capsule on temporal bone CT. There is no evidence of this phenomenon associated with SYNS1 in the literature. CT scanning can diagnose certain ossicular chain abnormalities, removing the need for tympanotomy under general anaesthetic. Syndromic hearing loss is progressive and should be monitored where appropriate.

Original publication




Journal article


Int J Pediatr Otorhinolaryngol

Publication Date





1438 - 1440


Adult, Child, Child, Preschool, Ear Ossicles, Female, Hearing Loss, Conductive, Humans, Male, Syndactyly, Syndrome, Synostosis, Temporal Bone, Tomography, X-Ray Computed