Yıl 2017, Cilt 5, Sayı 2, Sayfalar 27 - 31 2017-08-31

Pallister-Killian Syndrome: A Case Study

İbaa W.F. Yahya [1] , Jalil Ibrahim Alezzi [2] , Hikmet Akbulut [3] , Harun Peru [4]

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Abstract:

Pallister-Killian syndrome (PKS) is an extremely rare medical condition characterized by tetrasomy of P arm in 12th 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.

Pallister-Killian Syndrome, Child
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Birincil Dil en
Konular Sağlık Bilimleri
Dergi Bölümü Olgu Sunusu
Yazarlar

Yazar: İbaa W.F. Yahya (Sorumlu Yazar)
Ülke: Turkey


Yazar: Jalil Ibrahim Alezzi
Kurum: Diyala University, College of Medicine, Department of Pediatrics. Baqubah. Iraq
Ülke: Iraq


Yazar: Hikmet Akbulut (Sorumlu Yazar)
Ülke: Turkey


Yazar: Harun Peru
Kurum: Selçuk Üniversitesi Tıp Fakültesi Çocuk Nefroloji Bilim Dalı
Ülke: Turkey


Bibtex @olgu sunumu { pprjournal400066, journal = {Pediatric Practice and Research}, issn = {2147-6470}, address = {Resul Yılmaz}, year = {2017}, volume = {5}, pages = {27 - 31}, doi = {10.21765/pprjournal.400066}, title = {Pallister-Killian Syndrome: A Case Study}, key = {cite}, author = {Yahya, İbaa W.F. and Alezzi, Jalil Ibrahim and Akbulut, Hikmet and Peru, Harun} }
APA Yahya, İ , Alezzi, J , Akbulut, H , Peru, H . (2017). Pallister-Killian Syndrome: A Case Study. Pediatric Practice and Research, 5 (2), 27-31. DOI: 10.21765/pprjournal.400066
MLA Yahya, İ , Alezzi, J , Akbulut, H , Peru, H . "Pallister-Killian Syndrome: A Case Study". Pediatric Practice and Research 5 (2017): 27-31 <http://dergipark.gov.tr/pprjournal/issue/38769/400066>
Chicago Yahya, İ , Alezzi, J , Akbulut, H , Peru, H . "Pallister-Killian Syndrome: A Case Study". Pediatric Practice and Research 5 (2017): 27-31
RIS TY - JOUR T1 - Pallister-Killian Syndrome: A Case Study AU - İbaa W.F. Yahya , Jalil Ibrahim Alezzi , Hikmet Akbulut , Harun Peru Y1 - 2017 PY - 2017 N1 - doi: 10.21765/pprjournal.400066 DO - 10.21765/pprjournal.400066 T2 - Pediatric Practice and Research JF - Journal JO - JOR SP - 27 EP - 31 VL - 5 IS - 2 SN - 2147-6470- M3 - doi: 10.21765/pprjournal.400066 UR - http://dx.doi.org/10.21765/pprjournal.400066 Y2 - 2018 ER -
EndNote %0 Pediatric Practice and Research Pallister-Killian Syndrome: A Case Study %A İbaa W.F. Yahya , Jalil Ibrahim Alezzi , Hikmet Akbulut , Harun Peru %T Pallister-Killian Syndrome: A Case Study %D 2017 %J Pediatric Practice and Research %P 2147-6470- %V 5 %N 2 %R doi: 10.21765/pprjournal.400066 %U 10.21765/pprjournal.400066
ISNAD Yahya, İbaa W.F. , Alezzi, Jalil Ibrahim , Akbulut, Hikmet , Peru, Harun . "Pallister-Killian Syndrome: A Case Study". Pediatric Practice and Research 5 / 2 (Ağustos 2017): 27-31. http://dx.doi.org/10.21765/pprjournal.400066