An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome.

TitleAn unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome.
Publication TypeJournal Article
Year of Publication2014
AuthorsVerhagen JMA, Oostdijk W, Terwisscha van Scheltinga CEJ, Schalij-Delfos NE, van Bever Y
JournalEur J Med Genet
Volume57
Issue9
Pagination510-2
Date Published2014 Sep
ISSN1878-0849
Abstract

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.

DOI10.1016/j.ejmg.2014.05.005
Alternate JournalEur J Med Genet
Citation Key1506
PubMed ID24862881