Kabuki-make up sendromu: Olgu sunumu

Kabuki make-up sendromu, ilk kez Niikawa ve Kuroki tarafından tanımlanan multipl konjenital anomaliler, mental retardasyon, karakteristik yüz görünümü, iskelet anormallikleri, eklem laksisitesi, kısa boy, parmak ucu yastıkçıklarının belirginleşmesi ve anormal dermatoglifik patern ile karakterize bir durumdur. Japonya’da daha sık olduğu bilinen bu sendrom dünyanın değişik bölgelerinden bildirilmektedir. Unutkanlık, aşırı hareketlilik ve konuşma bozukluğu nedeniyle getirilen olgu, mental retardasyon, davranış ve fonolojik bozukluklara eşlik eden atipik yüz görünümü olan olgularda Kabuki make-up sendromunun da düşünülmesi gerektiğine dikkati çekmek amacıyla sunulmuştur.

Kabuki-make-up syndrome: A case report

Kabuki make-up syndrome which was first described by Niikawa and Kuroki is characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, skeletal abnormalities, joint laxity, short stature, prominent finger pads and abnormal dermatoglyphic pattern. It is reported in any part of the world but mostly in Japan. Here we report a case with mental retardation, developmental and phonologic problems associated with atypical facies that was examined for his forgetfulness, hyperactivity and speech delay to attract attention to this diagnosis.

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