title: Labyrinthine malformation in the 22q11.2 deletion syndrome.
abstract: 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.
authors.affiliation: Department of Otorhinolaryngology, Kymenlaakso Central Hospital, Kotka Departments of Radiology Otorhinolaryngology, Helsinki University Hospital, Helsinki, Finland.
authors.forename: Erkki
authors.initials: E
authors.lastname: Hopsu
authors.forename: Antti
authors.initials: A
authors.lastname: Markkola
authors.forename: Anne
authors.initials: A
authors.lastname: Pitkäranta
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology*; D004062:DiGeorge Syndrome / Q000235:genetics / Q000473:pathology*; D007758:Ear, Inner / Q000002:abnormalities*; D005260:Female; D006801:Humans