. 2017 Jul;173(7):1735-1738.

doi: 10.1002/ajmg.a.38266. Epub 2017 May 5.

Nomenclature and definition in asymmetric regional body overgrowth

Jennifer M Kalish¹, Leslie G Biesecker², Frederic Brioude³, Matthew A Deardorff¹, Alessandra Di Cesare-Merlone⁴, Todd Druley⁵, Giovanni B Ferrero⁶, Pablo Lapunzina⁷, Lidia Larizza⁸, Saskia Maas⁹, Marina Macchiaiolo¹⁰, Eamonn R Maher¹¹, Silvia Maitz¹², Julian A Martinez-Agosto¹³, Alessandro Mussa⁶, Peter Robinson¹⁴, Silvia Russo⁸, Angelo Selicorni¹⁵, Raoul C Hennekam¹⁶

Affiliations

¹ Division of Human Genetics, Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
² Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
³ UPMC University of Paris 06, Sorbonne Universités, Paris, France.
⁴ Oncoematologia Pediatrica, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy.
⁵ Department of Pediatrics, Center for Genome Sciences and Systems Biology and Department of Genetics, Washington University School of Medicine, St. Louis, Missouri.
⁶ Department of Pediatric and Public Health Sciences, University of Torino, Torino, Italy.
⁷ Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM, and CIBERER, ISCIII, Madrid, Spain.
⁸ Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Milan, Italy.
⁹ Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
¹⁰ UOC Malattie Rare, Ospedale Peiatrico Bambino Gesu, Rome, Italy.
¹¹ Department of Medical Genetics, University of Cambridge, and Cambridge NIHR Biomedical Research Center, Cambridge, United Kingdom.
¹² Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, Monza, Italy.
¹³ Department of Human Genetics, Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California.
¹⁴ The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut.
¹⁵ Pediatric Unit, ASST Lariana, Como, Italy.
¹⁶ Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

PMID: 28475229
PMCID: PMC5932268
DOI: 10.1002/ajmg.a.38266

Nomenclature and definition in asymmetric regional body overgrowth

Jennifer M Kalish et al. Am J Med Genet A. 2017 Jul.

. 2017 Jul;173(7):1735-1738.

doi: 10.1002/ajmg.a.38266. Epub 2017 May 5.

Authors

Affiliations

¹ Division of Human Genetics, Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
² Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
³ UPMC University of Paris 06, Sorbonne Universités, Paris, France.
⁴ Oncoematologia Pediatrica, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy.
⁵ Department of Pediatrics, Center for Genome Sciences and Systems Biology and Department of Genetics, Washington University School of Medicine, St. Louis, Missouri.
⁶ Department of Pediatric and Public Health Sciences, University of Torino, Torino, Italy.
⁷ Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM, and CIBERER, ISCIII, Madrid, Spain.
⁸ Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Milan, Italy.
⁹ Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
¹⁰ UOC Malattie Rare, Ospedale Peiatrico Bambino Gesu, Rome, Italy.
¹¹ Department of Medical Genetics, University of Cambridge, and Cambridge NIHR Biomedical Research Center, Cambridge, United Kingdom.
¹² Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, Monza, Italy.
¹³ Department of Human Genetics, Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California.
¹⁴ The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut.
¹⁵ Pediatric Unit, ASST Lariana, Como, Italy.
¹⁶ Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

PMID: 28475229
PMCID: PMC5932268
DOI: 10.1002/ajmg.a.38266

Abstract

We designate a novel term "isolated lateralized overgrowth" (ILO) for the findings previously described as "isolated hemihypertrophy" and "isolated hemihyperplasia." ILO is defined as lateralized overgrowth in the absence of a recognized pattern of malformations, dysplasia, or morphologic variants. ILO is likely genetically heterogeneous. Further study is required to determine more of the underlying genetic etiologies and potential associations with currently unrecognized patterns of malformation.

Keywords: Beckwith-Wiedemann syndrome; isolated hemihyperplasia; isolated hemihypertrophy; isolated lateralized overgrowth; isolated unilateral overgrowth; lateralized overgrowth; segmental overgrowth.

PubMed Disclaimer

Figures

**Figure 1**
A series of examples of individuals with isolated lateralized overgrowth.

See this image and copyright information in PMC

Cited by

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.
Luca M, Carli D, Cardaropoli S, Milani D, Cocchi G, Leoni C, Macchiaiolo M, Bartuli A, Tarani L, Melis D, Bontempo P, D'Elia G, Prada E, Vitale R, Grammegna A, Tannorella P, Sparago A, Pignata L, Riccio A, Russo S, Ferrero GB, Mussa A. Luca M, et al. Cancers (Basel). 2023 Jan 26;15(3):773. doi: 10.3390/cancers15030773. Cancers (Basel). 2023. PMID: 36765732 Free PMC article.
Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy.
Shin CH, Lim C, Kim HY, Yoo WJ, Cho TJ, Choi IH, Ko JM. Shin CH, et al. Orphanet J Rare Dis. 2021 Oct 9;16(1):418. doi: 10.1186/s13023-021-02042-6. Orphanet J Rare Dis. 2021. PMID: 34627330 Free PMC article.
Quantification of Lateralized Overgrowth and Genotype-Driven Tissue Composition.
Gazzin A, Reynolds G, Allegro D, Rossi D, Sciandra F, Afkhami HA, Cardaropoli S, Piglionica M, Resta N, Di Stefano M, Mussa A. Gazzin A, et al. Clin Genet. 2025 Jul;108(1):49-57. doi: 10.1111/cge.14713. Epub 2025 Feb 2. Clin Genet. 2025. PMID: 39894464 Free PMC article.
Lateralized and Segmental Overgrowth in Children.
Mussa A, Carli D, Cardaropoli S, Ferrero GB, Resta N. Mussa A, et al. Cancers (Basel). 2021 Dec 7;13(24):6166. doi: 10.3390/cancers13246166. Cancers (Basel). 2021. PMID: 34944785 Free PMC article. Review.
Beckwith-Wiedemann syndrome in diverse populations.
Duffy KA, Sajorda BJ, Yu AC, Hathaway ER, Grand KL, Deardorff MA, Kalish JM. Duffy KA, et al. Am J Med Genet A. 2019 Apr;179(4):525-533. doi: 10.1002/ajmg.a.61053. Epub 2019 Feb 4. Am J Med Genet A. 2019. PMID: 30719840 Free PMC article.

See all "Cited by" articles

References

1. Allanson JE, Biesecker LG, Carey JC, Hennekam RC. Elements of morphology: introduction. Am J Med Genet A. 2009;149A:2–5. - PMC - PubMed
1. Auerbach BM, Ruff CB. Limb bone bilateral asymmetry: variability and commonality among modern humans. J Hum Evol. 2006;50:203–218. - PubMed
1. Bazzocchi A, Ponti F, Albisinni U, Battista G, Guglielmi G. DXA: Technical aspects and application. Eur J Radiol. 2016;85:1481–1492. - PubMed
1. Clericuzio CL, Martin RA. Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. Genet Med. 2009;11:220–222. - PMC - PubMed
1. Hennekam RC, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC, Elements of Morphology C. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A. 2013;161A:2726–2733. - PubMed

Grants and funding

LinkOut - more resources

Full Text Sources
Other Literature Sources
- scite Smart Citations

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Nomenclature and definition in asymmetric regional body overgrowth

Affiliations

Nomenclature and definition in asymmetric regional body overgrowth

Authors

Affiliations

Abstract

Figures

Similar articles

Cited by

References

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Abstract

Figures

Similar articles

Cited by

References

Related information

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources