Pallister-Killian Syndrome: A Case Study

Yıl 2017, Cilt: 5 Sayı: 2, 27 - 31, 31.08.2017

İbaa W.f. Yahya , Jalil İbrahim Alezzi , Hikmet Akbulut , Harun Peru

https://doi.org/10.21765/pprjournal.400066

Öz

Abstract:

Pallister-Killian syndrome
(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.

Anahtar Kelimeler

Pallister-Killian Syndrome, Child

Kaynakça

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