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

Judith M.A. Verhagen, Wilma Oostdijk, Cecilia E.J. Terwisscha van Scheltinga, Nicoline E. Schalij-Delfos, Yolande van Bever*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

27 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)510-512
Number of pages3
JournalEuropean Journal of Medical Genetics
Volume57
Issue number9
DOIs
Publication statusPublished - Sept 2014

Bibliographical note

Publisher Copyright:
© 2014 Elsevier Masson SAS.

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