Zeynep Kamil Med J. 2019; 50(4): 227-229 | DOI: 10.16948/zktipb.458645

Kabuki Make-Up Syndrome: A Rare Case

ALÝ KARAMAN¹, Arda Cetinkaya¹, Selim Karaman^2
1SBU, Zeynep Kamil Women and Children Diseases Education and Research Hospital, Genetic Diagnosis Center, Istanbul, Turkey
²SBU, Ümraniye Training and Research Hospital, Department of Anesthesiology and Reanimation, Istanbul, Turkey

Kabuki Make-up Syndrome is a rare syndrome characterized by multiple congenital anomalies, typical with facial appearance, skeletal anomalies, dermatogliphic changes, postnatal growth failure and mental retardation. Kabuki Make-Up Syndrome is usually consisting of sporadic congenital disorder due to changes in MLL2 and KDM6A gene. We presented a case with typical features of Kabuki Make-Up Syndrome that has Kabuki type facial appearance, growth failure and mental retardation, fetal finger pads for contribute to the literature.

Keywords: kabuki, make up, mental retardation

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Kabuki Make-Up Sendromu: Nadir Bir Olgu

ALÝ KARAMAN¹, Arda Cetinkaya¹, Selim Karaman^2
1SBÜ, Zeynep Kamil Kadýn ve Çocuk Hastalýklarý Eðitim ve Araþtýrma Hastanesi, Genetik Taný Merkezi, Ýstanbul, Türkiye
²SBÜ, Ümraniye Eðitim ve Araþtýrma Hastanesi, Anestezi ve Reanimasyon Kliniði, Ýstanbul, Türkiye

Kabuki make-up sendromu, multipl konjenital anomaliler, tipik yüz görünümü, iskelet anomalisi, dermatoglifik deðiþiklikler, postnatal büyüme geriliði ve mental retardasyonla karakterize nadir bir sendromdur. Kabuki make-up sendromu, genellikle sporadik oluþan MLL2 ve KDM6A genindeki deðiþime baðlý doðumsal bir bozukluktur. Kabuki tipi yüz görünümü, geliþim geriliði, mental retardasyon, fetal parmak yastýkçýklarý olan Kabuki make-up Sendromlu bir olgu literatüre katký amacýyla sunuldu.

Anahtar Kelimeler: kabuki, make up, mental retardasyon

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