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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1735-1738
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number7
DOIs
Publication statusPublished - Jul 1 2017

Keywords

  • Beckwith-Wiedemann syndrome
  • isolated hemihyperplasia
  • isolated hemihypertrophy
  • isolated lateralized overgrowth
  • isolated unilateral overgrowth
  • lateralized overgrowth
  • segmental overgrowth

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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