1.
Clin Otolaryngol
; 46(5): 1142-1145, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33932260
2.
Int J Pediatr Otorhinolaryngol
; 74(12): 1438-40, 2010 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20870298
RESUMO
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.