Overgrowth Syndromes—Evaluation, Diagnosis, and Management

Frontiers in Pediatrics

article

Joshua Manor¹  Seema R. Lalani¹ 

[1] Department of Molecular Genetics, Baylor College of Medicine, United States

关键词: overgrowth;    Beckwith-Wiedemann;    Simpson-Golabi-Behmel;    Sotos;    Weaver;    Pten;    PIK3CA;    Proteus Syndrome;   

DOI  :  10.3389/fped.2020.574857

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 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.

【 授权许可】

CC BY