Kabuki Make-Up Sendromu: Nadir Bir Olgu

Year 2019, , 227 - 229, 15.12.2019

Ali Karaman

https://doi.org/10.16948/zktipb.458645

Abstract

Kabuki make-up sendromu, multipl konjenital anomaliler, tipik yüz görünümü, iskelet anomalisi, dermatoglifik
değişiklikler, postnatal büyüme geriliği ve mental
retardasyonla karakterize
nadir bir sendromdur. Kabuki make-up
sendromu, genellikle sporadik oluşan MLL2 ve KDM6A genindeki
değişime bağlı doğumsal bir bozukluktur. Kabuki
tipi yüz görünümü, gelişim geriliği, mental retardasyon, fetal parmak
yastıkçıkları olan Kabuki make-up Sendromlu bir olgu literatüre katkı
amacıyla sunuldu.

Keywords

Kabuki make up, Mental retardasyon

References

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