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Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.
. 2003 Dec 15; 123A(3):249-52.

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+Show Affiliations

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.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article
Research Support, U.S. Gov't, P.H.S.
Review

Language

eng

PubMed ID

14608645

Citation

Ming, Jeffrey E., et al. "Coloboma and Other Ophthalmologic Anomalies in Kabuki Syndrome: Distinction From Charge Association." American Journal of Medical Genetics. Part A, vol. 123A, no. 3, 2003, pp. 249-52.
Ming JE, Russell KL, Bason L, et al. Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. Am J Med Genet A. 2003;123A(3):249-52.
Ming, J. E., Russell, K. L., Bason, L., McDonald-McGinn, D. M., & Zackai, E. H. (2003). Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. American Journal of Medical Genetics. Part A, 123A(3), 249-52.
Ming JE, et al. Coloboma and Other Ophthalmologic Anomalies in Kabuki Syndrome: Distinction From Charge Association. Am J Med Genet A. 2003 Dec 15;123A(3):249-52. PubMed PMID: 14608645.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. AU - Ming,Jeffrey E, AU - Russell,Karen L, AU - Bason,Lynn, AU - McDonald-McGinn,Donna M, AU - Zackai,Elaine H, PY - 2003/11/11/pubmed PY - 2004/7/29/medline PY - 2003/11/11/entrez SP - 249 EP - 52 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 123A IS - 3 N2 - 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. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/14608645/Coloboma_and_other_ophthalmologic_anomalies_in_Kabuki_syndrome:_distinction_from_charge_association_ L2 - https://doi.org/10.1002/ajmg.a.20277 DB - PRIME DP - Unbound Medicine ER -