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Dergiler / Pediatric Practice and Research / 2017 / Cilt: 5 - Sayı: 2

Pallister-Killian Syndrome: A Case Study

İbaa W.f. YAHYA
Jalil İbrahim ALEZZİ
Hikmet AKBULUT
Harun PERU
Sayfa
27–31
Yayın Tarihi
2017-08-31
DOI
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Here, we present a two-month-old boy with typical case of PKS, and would like to increase attention to Pallister-Killian Syndrome.

📌 3 Maddede Bu Makale

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Amaç & Hipotez: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.
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Temel Bulgular & Veri:Pigmentation disorders mental retardation, seizures and hypotonia are common features of the syndrome.
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Sonuç & Katkı:Here, we present a two-month-old boy with typical case of PKS, and would like to increase attention to Pallister-Killian Syndrome.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Pallister-Killian Syndrome · Child

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.

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Bu Makaleye Atıf Yap

YAHYA, İ. W., ALEZZİ, J. İ., AKBULUT, H., PERU, H. (2017). Pallister-Killian Syndrome: A Case Study. Pediatric Practice and Research, Cilt: 5 - Sayı: 2, 27–31. https://ajindex.com/articles/795553

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