Cleft Palate Research Today is a free monthly online journal that collates and summarizes the latest research about Cleft Palate, including details on causes, surgery, treatment.

Labyrinthine malformation in the 22q11.2 deletion syndrome.

Hopsu E, Markkola A, Pitkäranta A

Department of Otorhinolaryngology, Kymenlaakso Central Hospital, Kotka, Finland. erkki.hopsu@kymshp.fi

Velocardiofacial syndrome and DiGeorge syndrome, integrating to form the 22q11.2 deletion syndrome, manifest frequently with hearing loss. Instead, a labyrinthine anomaly is only occasionally described in velocardiofacial syndrome/DiGeorge syndrome. We report a vestibular labyrinthine malformation demonstrated with computed tomographic scan in a patient with a palatal cleft and a 22q11.2 deletion presenting as velocardiofacial syndrome.

Published 12 December 2006 in Clin Dysmorphol, 16(1): 67-8.
Full-text of this article is available online (may require subscription).

© 2005-2008 Cleft Palate Research Today. All Rights Reserved.