Pallister-Killian Syndrome: A Case Study

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Pediatric Practice and Research
Volume:5 Issue:2
Pallister-Killian Syndrome: A Case Study

Pallister-Killian Syndrome: A Case Study

Authors : İbaa Wf YAHYA, Jalil İbrahim ALEZZİ, Hikmet AKBULUT, Harun PERU

Pages : 27-31

Doi:10.21765/pprjournal.400066

View : 39 | Download : 8

Publication Date : 2017-08-31

Article Type : Other Papers

Abstract :Abstract: Pallister-Killian syndrome insert ignore into journalissuearticles values(PKS); is an extremely rare medical condition characterized by tetrasomy of P arm in 12 th chromosome Individuals with this condition have also isochromosomic mosaicism. Pigmentation disorders mental retardation, seizures and hypotonia are common features of the syndrome. Anatomic malformation such as extremity deformities, short neck, frontal bossing, cardiac and renal pathologies are hallmark of clinical presentation in PKS. Here, we present a two-month-old boy with typical case of PKS, and would like to increase attention to Pallister-Killian Syndrome.
Keywords : Pallister Killian Syndrome, Child

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