CHARGE association: An update and review for the primary pediatrician

被引:336
作者
Blake, KD
Davenport, SLH
Hall, BD
Hefner, MA
Pagon, RA
Williams, MS
Lin, AE
Graham, JM
机构
[1] Univ Calif Los Angeles, Sch Med,Cedars Sinai Med Ctr,Dept Pediat, S Spielberg Pediat Res Ctr,Ahmanson Pediat Ctr, Med Genet Birth Defects Ctr,SHAREs Child Disabil, Los Angeles, CA 90048 USA
[2] Dalhousie Univ, Dept Pediat, Halifax, NS, Canada
[3] Neurodev, Sensory Genet, Bloomington, MN USA
[4] Univ Kentucky, Med Ctr, Dept Pediat Genet, Kentucky Clin, Lexington, KY USA
[5] St Louis Univ, Dept Pediat, Div Med Genet, St Louis, MO 63103 USA
[6] Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA
[7] Childrens Hosp, Med Ctr, Seattle, WA USA
[8] Gundersen Lutheran Med Ctr Ltd, Pediat & Genet, La Crosse, WI USA
[9] Massachusetts Gen Hosp, Boston, MA 02114 USA
关键词
D O I
10.1177/000992289803700302
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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 a awareness of this condition and advances in the care of complex, chronically ill children, resulting in improved survival and outcome, This review of CHARGE 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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收藏
页码:159 / 173
页数:15
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