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.

引用

页数：19

共 50 条

[41] Syndromes with focal overgrowth in infancy: Diagnostic approach and surgical treatment
Mirastschijski, Ursula
Altmann, Silke
Lenz-Scharf, Olivia
Muschke, Petra
Schneider, Wolfgang
JOURNAL OF PLASTIC SURGERY AND HAND SURGERY, 2012, 46 (01) : 45 - 48
[42] How we approach complex vascular anomalies and overgrowth syndromes
Watson, Katherine D.
Kim, Kyung R.
Blatt, Julie
PEDIATRIC BLOOD & CANCER, 2022, 69
[43] Simultaneous presence of Brugada and overgrowth syndromes
Segreti, Andrea
Piccirillo, Francesco
Crispino, Simone Pasquale
Cocchia, Francesca
Martucciello, Arianna
Calabrese, Vito
Gurrieri, Fiorella
Grigioni, Francesco
MONALDI ARCHIVES FOR CHEST DISEASE, 2024, 94 (01)
[44] Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma
Kalish, Jennifer M.
Doros, Leslie
Helman, Lee J.
Hennekam, Raoul C.
Kuiper, Roland P.
Maas, Saskia M.
Maher, Eamonn R.
Nichols, Kim E.
Plon, Sharon E.
Porter, Christopher C.
Rednam, Surya
Schultz, Kris Ann P.
States, Lisa J.
Tomlinson, Gail E.
Zelley, Kristin
Druley, Todd E.
CLINICAL CANCER RESEARCH, 2017, 23 (13) : E115 - E122
[45] Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes
Keppler-Noreuil, Kim M.
Burton-Akright, Jasmine
Lindhurst, Marjorie J.
Shwetar, Jasmine
Sapp, Julie C.
Darling, Thomas
Biesecker, Leslie G.
COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2019, 5 (04):
[46] Musculoskeletal and overgrowth syndromes associated with cutaneous abnormalities
Dasgeb, Bahar
Morris, Michael A.
Ring, Christina M.
Mehregan, Darius
Mulligan, Michael E.
BRITISH JOURNAL OF RADIOLOGY, 2016, 89 (1067)
[47] Epigenetic signatures in overgrowth syndromes: Translational opportunities
Cytrynbaunn, Cheryl
Choufani, Sanaa
Weksberg, Rosanna
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019, 181 (04) : 491 - 501
[48] Pediatric cancer incidence among individuals with overgrowth syndromes and overgrowth features: A population-based assessment in seven million children
Connolly, Gillean K.
Harris, Rachel D.
Shumate, Charles
Rednam, Surya P.
Canfield, Mark A.
Plon, Sharon E.
Nguyen, Joanne
Schraw, Jeremy M.
Lupo, Philip J.
CANCER, 2024, 130 (03) : 467 - 475
[49] Tumor predisposition syndromes and nephroblastoma Early diagnosis with imaging
Welter, N.
Furtwaengler, R.
Schneider, G.
Graf, N.
Schenk, J-P
RADIOLOGIE, 2022, 62 (12): : 1033 - 1042
[50] Cryopyrin-Associated Periodic Syndromes Diagnosis and Management
Miyamae, Takako
PEDIATRIC DRUGS, 2012, 14 (02) : 109 - 117

← 1 2 3 4 5 →