Pallister–Killian syndrome: an unusual presentation-Reference-Cited by-同舟云学术

Pallister–Killian syndrome: an unusual presentation

Published:1994-08 Issue:8 Volume:108 Page:669-670
ISSN:0022-2151
Container-title:The Journal of Laryngology & Otology
language:en
Short-container-title:J. Laryngol. Otol.

Author:

El-Naggar Mohamed,Hawthorne Maurice

Abstract

AbstractWe 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.

Publisher

Cambridge University Press (CUP)

Subject

Otorhinolaryngology,General Medicine

Reference8 articles.

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3. Teschler-Nicola/Killian syndrome: a sporadic case in an 11-year-old male;Hall;Journal of Clinical Dysmorphology,1983

4. Mosaic tetrasomy 12p: Four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases

5. Pallister mosaic syndrome, or mosaic tetrasomy 12p? An analysis.;Buyse;Journal of Clinical Dysmorphology,1983

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1. Neuroimaging findings in Pallister-Killian syndrome;The Neuroradiology Journal;2017-12-20

2. Pallister–Killian syndrome: A case with sensorineural hearing loss;International Journal of Pediatric Otorhinolaryngology Extra;2006-09

3. Brain MRI findings of older patients with Pallister–Killian syndrome;Brain and Development;2006-01

4. Severe Hearing Loss in Pallister-Killian Syndrome;ORL;2002

5. Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype;American Journal of Medical Genetics;1996-10-16