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CHARGE Association: An Update and Review for the Primary Pediatrician

Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada

Sandra L. H. Davenport, MD

Sensory Genetic, Neuro-Development, Bloomington, MN

Bryan D. Hall, MD

Department of Pediatrics/Genetics, University of Kentucky Medical Center, Kentucky Clinic, Lexington, KY

Margaret A. Hefner, MS

Division of Medical Genetics, Department of Pediatrics, St. Louis University, St. Louis, MO

Roberta A. Pagon, MD

Division of Medical Genetics, Department of Pediatrics, University of Washington and Children's Hospital Medical Center, Seattle, WA

Marc S. Williams, MD

Pediatrics and Genetics, Gundersen-Lutheran Medical Center, Ltd, La Crosse, WI

Angela E. Lin, MD

Genetics and Teratology, Massachusetts General Hospital, Boston, MA

John M. Graham, Jr, MD, ScD

Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Pediatric Center, SHARE's Child bisability Center, Department of Pediatrics, Cedars-Sinai Medical Center, University Affiliated Program, UCLA School of Medicine, Los Angeles, CA

CHARGE association is a nonrandom pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. This common multiple anomaly condition has an estimated prevalence of 1:10,000. The number of children diagnosed with CHARGE association is increasing, owing presumably to greater awareness of this condition and advances in the care of complex, chronically ill children, resulting in improved survival and outcome. This review of ClHARGE association presents diagnostic criteria that may define a concise, recognizable syndrome with a single pathogenetic basis. This review also summarizes our current understanding of the management for this complex and chronic multiple congenital anomaly condition and discusses the pathogenetic basis for this condition.

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