title: An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome.
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.
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center Rotterdam, The Netherlands.
authors.forename: Judith M A
authors.initials: JM
authors.lastname: Verhagen
authors.affiliation: Department of Pediatrics, Leiden University Medical Center, The Netherlands.
authors.forename: Wilma
authors.initials: W
authors.lastname: Oostdijk
authors.affiliation: Department of Pediatric Surgery, Erasmus Medical Center Rotterdam, The Netherlands.
authors.forename: Cecilia E J
authors.initials: CE
authors.lastname: Terwisscha van Scheltinga
authors.affiliation: Department of Ophthalmology, Leiden University Medical Center, The Netherlands.
authors.forename: Nicoline E
authors.initials: NE
authors.lastname: Schalij-Delfos
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center Rotterdam, The Netherlands. Electronic address: y.vanbever@erasmusmc.nl.
authors.forename: Yolande
authors.initials: Y
authors.lastname: van Bever
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D058747:CHARGE Syndrome / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D019066:Facies; D006402:Hematologic Diseases / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015837:Vestibular Diseases / Q000175:diagnosis*
keywords: Anal atresia; Coloboma; Kabuki syndrome; Microphthalmia; Panhypopituitarism