title: Severe hearing loss in Pallister-Killian syndrome.
abstract: Pallister-Killian syndrome is a rare disorder characterised by a specific combination of anatomic anomalies, mental retardation and lack of speech acquisition due to tetrasomy 12p. Hearing loss does not seem to be characteristic for this syndrome, although it was reported in several cases. We present the case of a girl first seen in our department at the age of 6 months. A severe sensory hearing loss was confirmed by subjective and objective audiometry. The child was successfully equipped with hearing aids. In the literature almost all children with Pallister-Killian syndrome are described as not developing verbal speech. Surprisingly their hearing abilities were not examined systematically. We advise audiological testing of children with Pallister-Killian syndrome.
authors.affiliation: Department of Phoniatrics and Pedaudiology, University of Erlangen-Nuremberg, Bohlenplatz 21, D-91054 Erlangen, Germany. Maria.Schuster@phoni-imed.uni-erlangen.de
authors.forename: Maria
authors.initials: M
authors.lastname: Schuster
authors.forename: U
authors.initials: U
authors.lastname: Hoppe
authors.forename: U
authors.initials: U
authors.lastname: Eysholdt
authors.forename: F
authors.initials: F
authors.lastname: Rosanowski
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001299:Audiometry; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006310:Hearing Aids; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics* / Q000534:rehabilitation; D006801:Humans; D007223:Infant; D013577:Syndrome