Nomenclature and definition in asymmetric regional body overgrowth

Jennifer M Kalish; Leslie G Biesecker; Frederic Brioude; Matthew A Deardorff; Alessandra Di Cesare-Merlone; Todd Druley; Giovanni B Ferrero; Pablo Lapunzina; Lidia Larizza; Saskia Maas; Marina Macchiaiolo; Eamonn R Maher; Silvia Maitz; Julian A Martinez-Agosto; Alessandro Mussa; Peter Robinson; Silvia Russo; Angelo Selicorni; Raoul C Hennekam

doi:10.1002/ajmg.a.38266

Nomenclature and definition in asymmetric regional body overgrowth

Am J Med Genet A. 2017 Jul;173(7):1735-1738. doi: 10.1002/ajmg.a.38266. Epub 2017 May 5.

Authors

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.

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.

Abstract

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