Two new Kabuki cases of Kabuki make-up syndrome
Küçük Resim Yok
Tarih
2006
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Diaphragmatic hernia, Epilepsy, Kabuki syndrome, Premature telarche
Kaynak
Marmara Medical Journal
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
19
Sayı
2
