title: Inner ear dysplasia with agenesis of the corpus callosum.
abstract: In this case report we describe a patient with agenesis of the corpus callosum and asymmetric bilateral sensorineural hearing loss, who was found to have a bilateral inner ear dysplasia. Both of these anomalies have been associated with different members of the Pax gene family. However, to our knowledge this is the first report demonstrating the coexistence of these two unusual entities. By uncovering the inner ear malformation, we are able to better counsel this patient with regard to avoidance of high-risk activities such as contact sports and recommend prophylactic vaccination for meningitis prevention.
authors.affiliation: University of Miami Ear Institute, Department of Otolaryngology, 1666 NW 10th Avenue, Suite 306, Miami, FL 33136, United States.
authors.forename: Lee P
authors.initials: LP
authors.lastname: Smith
authors.forename: Kian
authors.initials: K
authors.lastname: Karimi
authors.forename: Simon I
authors.initials: SI
authors.lastname: Angeli
mesh_terms: D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D003051:Cochlea / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D006313:Hearing Loss, Central / Q000000981:diagnostic imaging*; D006319:Hearing Loss, Sensorineural / Q000000981:diagnostic imaging*; D006801:Humans; D008297:Male; D014057:Tomography, X-Ray Computed