Cited by 276Genetic Syndromes and ImprintingSarcoma Diagnosis and TreatmentGrowth Hormone and Insulin-like Growth Factors

The DOI matches its Crossref record; 308 of the 313 references it cites were found in a registry or an index.

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Lapunzina, Pablo·2005·American Journal of Medical Genetics Part C Seminars in Medical Genetics

Abstract

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 deviations (SD) above the mean for sex and age. A striking feature of OGS is the risk of neoplasms. Here, the relative frequency of specific tumors in each OGS, topographic location, and age of appearance is determined by reviewing published cases. In some OGS (Perlman, Beckwith-Wiedemann, and Simpson-Golabi-Behmel syndromes and hemihyperplasia) more than 94% of tumors appeared in the abdomen usually before 10 years of age, mainly embryonal in type. In Perlman syndrome, only Wilms tumor has been recorded, whereas in Sotos syndrome, lympho-hematologic tumors are most frequent. Based on literature review, a specific schedule protocol for tumor screening is suggested for each OGS. A schedule with different intervals and specific tests is proposed for a more rational cost/benefit program for these disorders.

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Crossref · 10.1002/ajmg.c.30064

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5 of the 313 references couldn’t be matched to a known paper.

Research works printed but not linked: 21

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Metadata

Authors
Lapunzina, P.
Affiliations
Dalhousie University (CA)
Corresponding author
Lapunzina, Pablo
Venue
American Journal of Medical Genetics Part C Seminars in Medical Genetics
Publisher
Wiley
Published
2005-07-11
Volume
137C
Issue
1
Pages
53-71
ISSN
  • 1552-4868 (ISSN-L)
  • 1552-4876
OpenAlex
W2058376960
Cited by
276
References
313
Citations by year
2026: 2 · 2025: 10 · 2024: 8 · 2023: 9 · 2022: 11 · 2021: 11 · 2020: 11 · 2019: 15 · 2018: 25 · 2017: 19 · 2016: 15 · 2015: 12 · 2014: 19 · 2013: 19 · 2012: 14
FWCI
1.12
Type
journal article
Language
en
Open access
closed
Locations
  • American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
  • Health Sciences › Medicine › Oncology › Sarcoma Diagnosis and Treatment
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
Keywords
overgrowth syndromes, carcinogenesis, Perlman syndrome, Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sotos syndrome, Wilms tumor, embryonal tumors, abdominal tumors
MeSH terms
Abnormalities, Multiple, Disease Susceptibility, Growth Disorders, Humans, Neoplasms, Syndrome

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