PRC2‐complex related dysfunction in overgrowth syndromes: A review of EZH2 , EED , and SUZ12 and their syndromic phenotypes

2019 ◽  
Vol 181 (4) ◽  
pp. 519-531 ◽  
Author(s):  
Sharri Cyrus ◽  
Deepika Burkardt ◽  
David D. Weaver ◽  
William T. Gibson
Keyword(s):  
Overgrowth Syndromes

Orthopaedic perspectives on CLOVES and Proteus syndrome - how to treat deformities related to overgrowth syndromes?

2020 ◽  
Author(s):  
A Laufer ◽  
A Frommer ◽  
G Gosheger ◽  
R Rödl ◽  
AM Rachbauer ◽  
...  
Keyword(s):  
Proteus Syndrome ◽  
Overgrowth Syndromes

scholarly journals Lymphatic Malformation Responsive to Sirolimus in Keratinocytic Epidermal Nevus Syndrome with KRAS Mutation: A Case and Brief Literature Discussion

2021 ◽  
pp. 195-201
Author(s):  
Emily Sideris ◽  
Er Tsing Vivian Tng ◽  
Paul Chee
Keyword(s):  
Current Literature ◽  
Kras Mutation ◽  
Rare Case ◽  
Mtor Inhibitor ◽  
Vascular Malformations ◽  
Lymphatic Malformation ◽  
Literature Discussion ◽  
Lymphatic Malformations ◽  
Epidermal Nevus ◽  
Overgrowth Syndromes

We present a rare case of KRAS keratinocytic epidermal nevus syndrome with lymphatic malformation, responsive to treatment with sirolimus, an mTOR inhibitor. A brief review of the current literature regarding sirolimus use in vascular malformations, lymphatic malformations, regional overgrowth syndromes, and RASopathies is discussed.

Overgrowth syndromes

2012 ◽  
Vol 24 (4) ◽  
pp. 505-511 ◽  
Author(s):  
Orla M. Neylon ◽  
George A. Werther ◽  
Matthew A. Sabin
Keyword(s):  
Overgrowth Syndromes

Hereditary Overgrowth Syndromes

2021 ◽  
pp. 163-188
Author(s):  
Jack Brzezinski ◽  
Cheryl Shuman ◽  
Rosanna Weksberg
Keyword(s):  
Overgrowth Syndromes

Overgrowth

2019 ◽  
pp. 17-24
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Birth Weight ◽  
Clinical Case ◽  
Chromosomal Microarray ◽  
Costello Syndrome ◽  
Sotos Syndrome ◽  
Case Presentation ◽  
Common Cause ◽  
Segmental Overgrowth ◽  
Diabetic Mothers ◽  
Overgrowth Syndromes

This chapter reviews information on disorders that cause large birth weight, macrosomia, and/or segmental overgrowth. The most common of these conditions is seen in infants of diabetic mothers. Abnormal dosage of growth regulating genes make chromosomal microarray abnormalities a relatively common cause of overgrowth. Particularly notable is the distinctive Pallister Killian syndrome (12p tetrasomy). Other common overgrowth syndromes include Beckwith-Wiedemann syndrome, Sotos, Malan, and Weaver syndromes. The RASopathy syndromes including Noonan syndrome* and Costello syndrome are also often large at birth. Segmental overgrowth syndromes including Proteus and Klippel Trenaunay as well as PIK3CA related overgrowth (PROS) are discussed as well as their somatic mosaic origin in affected tissues. Clinical guidelines for evaluation and surveillance are outlined. The clinical case presentation features an infant with Sotos syndrome.

Proteus Syndrome

2019 ◽  
pp. 199-216 ◽  
Author(s):  
Leslie G. Biesecker
Keyword(s):  
Somatic Mosaicism ◽  
Body Part ◽  
The Body ◽  
National Institutes Of Health ◽  
Proteus Syndrome ◽  
Neoplastic Disease ◽  
Increased Risk ◽  
Activating Mutation ◽  
Segmental Overgrowth ◽  
Overgrowth Syndromes

Proteus syndrome is an exceedingly rare disorder, perhaps the least common of all overgrowth syndromes but one of the most distinctive because of its segmental nature and unrelenting progression. Proteus syndrome occurs sporadically and was the first of the segmental overgrowth syndromes found to be caused by somatic mosaicism. The discovery of an activating mutation in AKT1 by Les Biesecker and colleagues at the National Institutes of Health provided the initial molecular proof for somatic mosaicism in Proteus syndrome. Overgrowth in Proteus syndrome can involve nearly any tissue or part of the body. Presumably a germline mutation that would affect all tissues of the body would be lethal. Overgrowth of a tissue or a body part is the distinctive manifestation of Proteus syndrome but in most cases will be accompanied by other cutaneous, skeletal, vascular, or soft tissue findings. Although the possibility of an increased risk for developing neoplastic disease is a concern in any overgrowth disorder, this has not been demonstrated in Proteus syndrome.

Beckwith-Wiedemann Syndrome

2019 ◽  
pp. 39-72
Author(s):  
Alessandro Mussa ◽  
Jennifer M. Kalish ◽  
Flavia Cerrato ◽  
Andrea Riccio ◽  
Giovanni Battista Ferrero
Keyword(s):  
Differential Diagnosis ◽  
In Vitro Fertilization ◽  
Diagnostic Criteria ◽  
Clinical Aspects ◽  
Molecular Pathways ◽  
Vitro Fertilization ◽  
Imprinting Disorders ◽  
Risk Of Malignancy ◽  
Overgrowth Syndromes

This chapter provides a thorough overview of Beckwith-Wiedemann syndrome, which is considered to be the most common of the overgrowth syndromes and imprinting disorders. It starts with a description of the clinical aspects of the condition, including diagnostic criteria, differential diagnosis, risk of malignancy, and management. This is followed by an in-depth description of the genetic causes of the syndrome and of the molecular pathways involved in the pathogenesis of this disorder. The complexities of the etiology, which involves two neighboring loci, each one regulated by finely tuned imprinting mechanisms, are clearly delineated. The chapter also touches on the reported association between in vitro fertilization and risk of conceiving a baby with this syndrome.

Current Concepts in Tall Stature and Overgrowth Syndromes

2001 ◽  
Vol 14 (s2) ◽  
Author(s):  
S.L.S. Drop ◽  
N. Greggio ◽  
M. Cappa ◽  
S. Bernasconi
Keyword(s):  
Sex Steroids ◽  
Bone Age ◽  
Prediction Equation ◽  
Favourable Effect ◽  
Tall Stature ◽  
Growth Data ◽  
Therapeutic Modalities ◽  
Height Prediction ◽  
High Doses ◽  
Overgrowth Syndromes

AbstractIn this overview an update is given on the pathogenesis, classification and differential diagnosis of overgrowth syndromes. In addition, height prognosis and therapeutic modalities available for managing mainly constitutional tall stature are discussed. Constitutional tall stature comprises normal variants in which one or both parents are tall. Primary disorders may have a prenatal onset and may be of chromosomal or genetic origin. Secondary overgrowth syndromes are most often the result of hormonal disturbances. Height prediction plays a key role in the management of tall children. Prediction equation models have been developed based on the growth data of healthy tall children. There is general agreement that a favourable effect on reducing ultimate height is obtained using high doses of sex steroids (girls 100-300 μg ethinyl- oestradiol; boys testosterone (T) ester depot preparations 250-1000 mg/month), the height reduction being greater when the treatment is started at a lower chronological and/or bone age. An alternative is the induction of puberty with low doses of sex steroids (girls 5-50 μg ethinyloestradiol; boys T esters 25-50 mg/m

scholarly journals Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

2018 ◽  
Vol 44 (1) ◽  
Author(s):  
Alice Maguolo ◽  
Franco Antoniazzi ◽  
Alice Spano ◽  
Elena Fiorini ◽  
Rossella Gaudino ◽  
...  
Keyword(s):  
Pik3ca Gene ◽  
Segmental Overgrowth ◽  
Overgrowth Syndromes
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