Generalized Overgrowth Syndromes With Prenatal Onset

被引:7
作者
Yachelevich, Naomi [1 ]
机构
[1] NYU, Clin Genet Serv, Ctr Hosp, New York, NY 10012 USA
关键词
GOLABI-BEHMEL-SYNDROME; BECKWITH-WIEDEMANN-SYNDROME; SOTOS-SYNDROME; NSD1; ALTERATIONS; SYNDROME TYPE-1; WEAVER-SYNDROME; MUTATIONS; PTEN; TUMOR; CANCER;
D O I
10.1016/j.cppeds.2015.02.005
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Children with generalized overgrowth syndromes are large at birth, or have excessive postnatal growth. Many of these syndromes are associated with an increase in neoplasia. Consideration of the possibility of overgrowth syndrome in a pediatric patient who presents with increased growth parameters, variable malformations and neurodevelopmental phenotype, and distinctive features, is important for medical management, reproductive counseling, and tumor surveillance for some of the disorders. This review describes the clinical features and surveillance recommendations for the common generalized overgrowth syndromes the pediatrician may encounter. It also provides a glimpse into advances of recent years in understanding the molecular mechanisms responsible for the disrupted growth regulation in these disorders.
引用
收藏
页码:97 / 111
页数:15
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