@article{article_400066, title={Pallister-Killian Syndrome: A Case Study}, journal={Pediatric Practice and Research}, volume={5}, pages={27–31}, year={2017}, DOI={10.21765/pprjournal.400066}, author={Yahya, İbaa W.f. and Alezzi, Jalil İbrahim and Akbulut, Hikmet and Peru, Harun}, keywords={Pallister-Killian Syndrome,Child}, abstract={<p class="Standard" style="margin-top:3pt;line-height:200%;"> <span lang="en-us" style="font-family:Arial, sans-serif;" xml:lang="en-us">Abstract: </span> </p> <p> </p> <p> </p> <p class="MsoNormal" style="text-align:justify;line-height:200%;"> <span lang="en-us" style="font-family:Arial, ’sans-serif’;" xml:lang="en-us">Pallister-Killian syndrome
(PKS) is an extremely rare medical condition characterized by tetrasomy of P
arm in 12 <sup>th </sup> 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. </span> </p> <p> </p>}, number={2}, publisher={Resul YILMAZ}