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.
Primary Language | en |
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Subjects | Health Care Sciences and Services |
Journal Section | Case Reports |
Authors |
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Dates |
Acceptance Date
: August 27, 2018
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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 |