title: Pallister-Killian syndrome: an unusual presentation.
abstract: We present a nine-month-old baby, diagnosed as having Pallister-Killian syndrome, whose referral and investigation for possible hearing loss has led to this diagnosis. Emphasis is placed on the importance of the skin biopsy for the diagnosis of this underlying genetic abnormality.
authors.affiliation: Department of Otorhinolaryngology, North Riding Infirmary, Middlesbrough.
authors.forename: M
authors.initials: M
authors.lastname: el-Naggar
authors.forename: M
authors.initials: M
authors.lastname: Hawthorne
mesh_terms: D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism