title: Cranial nerve abnormalities in CHARGE association.
abstract: Many children with the CHARGE association have facial paralysis and feeding and swallowing difficulties. Indeed, facial paralysis and pharyngeal incoordination may be important diagnostic indicators of CHARGE association [Davenport et al., 1986a; Mitchell et al., 1985]. We describe an individual with dysfunction of multiple cranial nerves (Möbius sequence) and CHARGE association, a previously unrecognized combination. Our review of 150 patients from the literature and 13 patients from this center with CHARGE association documented that dysfunction of cranial nerves is frequent in CHARGE association, and that often cranial nerve abnormalities are multiple. Such multiple cranial nerve abnormalities may be the primary underlying cause for the facial paralysis, feeding difficulties and sensorineural hearing loss seen in many individuals with CHARGE association.
authors.affiliation: Department of Medical Genetics, University of Wisconsin, Madison.
authors.forename: K A
authors.initials: KA
authors.lastname: Byerly
authors.forename: R M
authors.initials: RM
authors.lastname: Pauli
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002754:Choanal Atresia / Q000150:complications; D003103:Coloboma / Q000150:complications; D003391:Cranial Nerves / Q000002:abnormalities* / Q000503:physiopathology; D003638:Deafness / Q000150:complications; D005158:Facial Paralysis / Q000150:complications; D001068:Feeding and Eating Disorders / Q000150:complications; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007223:Infant; D013577:Syndrome