2014-06-16
An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome
Publication
Publication
Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance, skeletal anomalies, a variety of visceral malformations and abnormal dermatoglyphic patterns. We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral microphthalmia, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome. This report demonstrates that clinical follow-up and molecular genetic testing can be useful for establishing the correct diagnosis.
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doi.org/10.1016/j.ejmg.2014.05.005, hdl.handle.net/1765/70535 | |
European Journal of Medical Genetics | |
Organisation | Department of Clinical Genetics |
Verhagen, J., Oostdijk, W., Terwisscha van Scheltinga, S., Schalij-Delfos, N., & van Bever, Y. (2014). An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome. European Journal of Medical Genetics. doi:10.1016/j.ejmg.2014.05.005 |