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Neurofibromatosis Type 1—An Update and Review for the Primary Pediatrician

Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Pediatric Center, SHARE's Child Disability Center, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048; Hadassah Medical School, Jerusalem, Israel

Kurt Dibbern, M.D.

Jana Klein, M.S.

Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Pediatric Center, SHARE's Child Disability Center, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048

Vincent M. Riccardi, M.D.

The Neurofibromatosis Institute, 5415 Briggs Avenue, La Crescenta, CA 91214

John M. Graham, Jr., M.D., Sc.D.

Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Pediatric Center, SHARE's Child Disability Center, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048

With an incidence of 1 in 3,000, neurofibromatosis type 1 (NFl), or von Recklinghausen disease, is one of the most common genetic disorders encountered by primary care physicians. NFI is a multisystem disease that affects more than one million people worldwide (more than 80,000 in the United States). Although most pediatricians have patients with NFl in their practices, many affected individuals go undiagnosed as children. This article is intended to facilitate the diagnosis and management of young patients with NFl.

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				J.M. Friedman Review Article : Neurofibromatosis 1: Clinical Manifestations and Diagnostic Criteria J Child Neurol, August 1, 2002; 17(8): 548 - 554. [Abstract] [PDF]