Overgrowth syndromes

AC Edmondson, JM Kalish - Journal of pediatric genetics, 2015 - thieme-connect.com
Numerous multiple malformation syndromes associated with pathologic overgrowth have
been described and, for many, their molecular bases elucidated. This review describes the …

Characterization and childhood tumor risk assessment of genetic and epigenetic syndromes associated with lateralized overgrowth

JR Griff, KA Duffy, JM Kalish - Frontiers in pediatrics, 2020 - frontiersin.org
Lateralized overgrowth (LO), or segmental overgrowth, is defined as an increase in growth
of tissue (bone, muscle, connective tissue, vasculature, etc.) in any region of the body. Some …

Clinical and molecular overlap in overgrowth syndromes

G Baujat, M Rio, S Rossignol… - American Journal of …, 2005 - Wiley Online Library
Although problems in overgrowth were documented and appreciated in the nineteenth
century, conditions such as Beckwith–Wiedemannsyndrome (BWS, OMIM 130650) and …

[HTML][HTML] Overgrowth syndromes caused by somatic variants in the phosphatidylinositol 3-kinase/AKT/mammalian target of rapamycin pathway

G Akgumus, F Chang, MM Li - The Journal of Molecular Diagnostics, 2017 - Elsevier
Somatic variants have been well described in tumorigenesis; however, they are only
recently appreciated in other human disorders, such as mosaic overgrowth syndromes …

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies

KM Keppler‐Noreuil, VER Parker… - American Journal of …, 2016 - Wiley Online Library
The phosphatidylinositol‐3‐kinase (PI3K)/AKT/mTOR signaling pathway plays an essential
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …

Risk of tumorigenesis in overgrowth syndromes: a comprehensive review

P Lapunzina - American Journal of Medical Genetics Part C …, 2005 - Wiley Online Library
Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders in which the
main characteristic is that either weight, height, or head circumference is 2–3 standard …

A clinical review of generalized overgrowth syndromes in the era of massively parallel sequencing

B Kamien, A Ronan, G Poke, I Sinnerbrink… - Molecular …, 2018 - karger.com
The overgrowth syndromes are important to diagnose, not just for accurate genetic
counseling, but also for knowledge surrounding cancer surveillance and prognosis. There …

Growing interest in overgrowth

T Cole - Archives of disease in childhood, 1998 - adc.bmj.com
Congenital malformations or complex malformation syndromes are frequently associated
with growth failure and have been the subject of much research and discussion in the …

Overgrowth syndromes—clinical and molecular aspects and tumour risk

F Brioude, A Toutain, E Giabicani, E Cottereau… - Nature Reviews …, 2019 - nature.com
Overgrowth syndromes are a heterogeneous group of rare disorders characterized by
generalized or segmental excessive growth commonly associated with additional features …

Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations

LS Lacerda, ÚD Alves, JFC Zanier… - Radiology research …, 2014 - Wiley Online Library
Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized
by excessive tissue development. Some of these syndromes may be associated with …