The 18p- syndrome which is caused by partial or total deletion of the short arm of chromosome 18 presents multiple clinical features ranging from severe malformations in compatible with life, to mild physical abnormalities.
There has been no report describing the temporal bone histopathology in the 18p- syndrome. This case is the first reported temporal bone histopathology in the 18p- syndrome.
The female stillborn infant delivered at 25 weeks' gestation was applicable to the severe form of this syndrome. The histopathologic findings demonstrated relatively mild malformation of the ossicles, facial nerve and cochlea. Because of mild aural anomalies in the severe form of 18p- syndrome, and because of few clinical reports involving deafness, the possibility of severe aural anomalies or profound deafness associated with 18psyndrome seems to be slight, though this conclusion needs further investigation on cases of this syndrome.
