Overgrowth Syndromes-Evaluation, Diagnosis, and Management

被引:49
|
作者
Manor, Joshua [1 ]
Lalani, Seema R. [1 ]
机构
[1] Baylor Coll Med, Dept Mol Genet, Houston, TX 77030 USA
来源
FRONTIERS IN PEDIATRICS | 2020年 / 8卷
关键词
overgrowth; Beckwith-Wiedemann; Simpson-Golabi-Behmel; Sotos; Weaver; Pten; PIK3CA; Proteus Syndrome; BECKWITH-WIEDEMANN SYNDROME; SIMPSON-GOLABI-BEHMEL; GROWTH-PLATE CHONDROCYTE; SOTOS-SYNDROME; TUMOR SURVEILLANCE; PROTEUS-SYNDROME; WILMS-TUMOR; MUTATIONS; PHENOTYPE; METHYLATION;
D O I
10.3389/fped.2020.574857
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Abnormally excessive growth results from perturbation of a complex interplay of genetic, epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes generally present with inherent health concerns and, in some instances, an increased risk of tumor predisposition that necessitate prompt diagnosis and appropriate referral. In this review, we introduce some of the more common overgrowth syndromes, along with their molecular mechanisms, diagnostics, and medical complications for improved recognition and management of patients affected with these disorders.
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页数:19
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