Two new kabuki cases of kabuki make-up syndrome(Olgu Sunumu)
Atabek, Mehmet Emre
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Kabuki syndrome (Kabuki make-up syndrome, Niikawa–Kuroki syndrome) is a multiple congenital anomaly/mental retardation syndrome. We report on an 11-month-old girl with Kabuki make-up syndrome who has premature telarche, premature pubarche and epilepsy, and a 4-month-old boy with Kabuki make-up syndrome who had been operated due to diaphragmatic hernia and had mesocardia confirmed by echocardiography. In the study, we emphasize that careful phenotypic examination of children should be performed in every patient presenting with mental retardation and epilepsy to diagnose Kabuki syndrome and the patients diagnosed as Kabuki syndrome should be followed for precocius puberty. We suggest that mesocardia, which has not been reported in the literature yet, may be considered as one of the cardiological findings of Kabuki syndrome and all Kabuki patients should be evaluated for life-threatening complications of congenital diaphragmatic hernia.