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dc.contributor.authorSert, Ahmet
dc.contributor.authorAtabek, Mehmet Emre
dc.contributor.authorPirgon, Özgür
dc.date.accessioned2014-09-15T08:35:58Z
dc.date.available2014-09-15T08:35:58Z
dc.date.issued2006
dc.identifier.issn1309-9469
dc.identifier.urihttp://hdl.handle.net/11424/3122
dc.description.abstractKabuki 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.en_US
dc.language.isoenen_US
dc.publisherMarmara Medical Journalen_US
dc.subjectDiaphragmatic hernia, epilepsy, Kabuki syndrome, premature telarcheen_US
dc.titleTwo new kabuki cases of kabuki make-up syndrome(Olgu Sunumu)en_US
dc.typeArticleen_US
dc.contributor.authorIDTR15426en_US
dc.contributor.authorIDTR140390en_US


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