title: Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.
abstract: Kabuki (Niikawa-Kuroki) syndrome is associated with growth retardation, developmental delay, congenital heart disease, cleft palate, and characteristic facial features. Although the external appearance of the eyes has been well-described, the type and frequency of structural and functional eye anomalies has not been emphasized. We report three children with Kabuki syndrome who also had a retinal coloboma. A diagnosis of CHARGE association was initially suggested in two of the patients before the typical facial features of Kabuki syndrome emerged. A detailed review of reported cases of Kabuki syndrome shows that a variety of eye anomalies are associated with Kabuki syndrome. The incidence of coloboma is greatly increased in Kabuki syndrome. Thus, ophthalmologic abnormalities are frequently associated with Kabuki syndrome, and an ophthalmologic evaluation should be performed for each patient. Phenotypic overlap, including congenital heart, ear, and renal defects, can lead to the diagnosis of CHARGE association, especially since the typical facial features of Kabuki syndrome may not be apparent in early infancy. Thus, Kabuki syndrome should be considered in patients with coloboma if other features consistent with this condition are present, and follow-up evaluations are indicated for establishing the proper diagnosis.
authors: Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA. jeming@mail.med.upenn.edu
authors: Jeffrey E
authors: JE
authors: Ming
authors: Karen L
authors: KL
authors: Russell
authors: Lynn
authors: L
authors: Bason
authors: Donna M
authors: DM
authors: McDonald-McGinn
authors: Elaine H
authors: EH
authors: Zackai
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002490:Central Nervous System / Q000002:abnormalities; D002675:Child, Preschool; D002754:Choanal Atresia / Q000473:pathology; D003103:Coloboma / Q000473:pathology*; D002658:Developmental Disabilities / Q000473:pathology; D003937:Diagnosis, Differential; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology; D007621:Karyotyping; D008297:Male; D013577:Syndrome