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Pallister–Killian syndrome: an unusual presentation

Published online by Cambridge University Press:  29 June 2007

Mohamed El-Naggar  and
Maurice Hawthorne
Mohamed El-Naggar*
Affiliation:
Department of Otorhinolaryngology, North Riding Infirmary, Middlesbrough
Maurice Hawthorne
Affiliation:
Department of Otorhinolaryngology, North Riding Infirmary, Middlesbrough
*
Mr M. Hawthorne, F.R.C.S., ENT Consultant, North Riding Infirmary, Newport Road, Middlesbrough, Cleveland TS1 5JE. fax 0642 231154.
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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.

Keywords

Chromosome abnormalitiesHearing lossPallister-Killian syndrome
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 108 , Issue 8 , August 1994 , pp. 669 - 670
Copyright
Copyright © JLO (1984) Limited 1994

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References

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