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Year 2017, Volume 5 , Issue 2, Pages 27 - 31 2017-08-31

Abstract

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.

Keywords

Pallister-Killian Syndrome, Child

References

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Details

Primary Language en
Subjects Health Care Sciences and Services
Journal Section Case Reports
Authors

Author: İbaa W.f. YAHYA (Primary Author)
Country: Turkey

Author: Jalil İbrahim ALEZZİ
Institution: Diyala University, College of Medicine, Department of Pediatrics. Baqubah. Iraq
Country: Iraq

Author: Hikmet AKBULUT (Primary Author)
Country: Turkey

Author: Harun PERU
Institution: Selçuk Üniversitesi Tıp Fakültesi Çocuk Nefroloji Bilim Dalı
Country: Turkey
Dates

Acceptance Date : August 27, 2018
Publication Date : August 31, 2017

Cite

Bibtex @case report { pprjournal400066, journal = {Pediatric Practice and Research}, issn = {2147-6470}, address = {}, publisher = {MediHealth Academy Yayıncılık}, 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 Alezzi̇, Jalil İbrahim and Akbulut, Hikmet and Peru, Harun} }
APA Yahya, İ , Alezzi̇, 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 , Alezzi̇, J , Akbulut, H , Peru, H . "Pallister-Killian Syndrome: A Case Study" . Pediatric Practice and Research 5 (2017 ): 27-31 <https://dergipark.org.tr/en/pub/pprjournal/issue/38769/400066>
Chicago Yahya, İ , Alezzi̇, 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 İbrahim Alezzi̇ , 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 - https://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 İbrahim Alezzi̇ , 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. , Alezzi̇, Jalil İbrahim , Akbulut, Hikmet , Peru, Harun . "Pallister-Killian Syndrome: A Case Study". Pediatric Practice and Research 5 / 2 (August 2017): 27-31 . https://doi.org/10.21765/pprjournal.400066
AMA Yahya İ , Alezzi̇ J , Akbulut H , Peru H . Pallister-Killian Syndrome: A Case Study. pediatr pract res. 2017; 5(2): 27-31.
Vancouver Yahya İ , Alezzi̇ J , Akbulut H , Peru H . Pallister-Killian Syndrome: A Case Study. Pediatric Practice and Research. 2017; 5(2): 27-31.
IEEE İ. Yahya , J. Alezzi̇ , H. Akbulut and H. Peru , "Pallister-Killian Syndrome: A Case Study", Pediatric Practice and Research, vol. 5, no. 2, pp. 27-31, Aug. 2017, doi:10.21765/pprjournal.400066
Authors of the Article
İbaa W.f. YAHYA [1]
Jalil İbrahim ALEZZİ [2]
Hikmet AKBULUT [3]
Harun PERU [4]
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