Article
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity.
American journal of medical genetics. Part A - 1 Dec 2016
Bögershausen Nina, Altunoglu Umut, Beleggia Filippo, Yigit Gökhan, Kayserili Hülya, Nürnberg Peter, Li Yun, Altmüller Janine, Wollnik Bernd
Abstract excerpt
Kabuki syndrome (KS) is a rare developmental disorder characterized by multiple congenital malformations, postnatal growth retardation, intellectual disability, and recognizable facial features. It is mainly caused by mutations in either KMT2D or KDM6A. We describe a 14-year-old boy with KS presenting with an unusual combination of bilateral microphthalmia with orbital cystic venous lymphatic malformation and...
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