Nomenclature and definition in asymmetric regional body overgrowth
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Authors
Kalish, JM
Biesecker, LG
Brioude, F
Deardorff, MA
Di Cesare-Merlone, A
Druley, T
Ferrero, GB
Lapunzina, P
Larizza, L
Maas, S
Macchiaiolo, M
Maitz, S
Martinez-Agosto, JA
Mussa, A
Robinson, P
Russo, S
Selicorni, A
Hennekam, RC
Publication Date
2017-07Journal Title
American Journal of Medical Genetics, Part A
ISSN
1552-4825
Publisher
Wiley-Liss Inc
Volume
173
Issue
7
Pages
1735-1738
Language
English
Type
Article
This Version
AM
Metadata
Show full item recordCitation
Kalish, J., Biesecker, L., Brioude, F., Deardorff, M., Di Cesare-Merlone, A., Druley, T., Ferrero, G., et al. (2017). Nomenclature and definition in asymmetric regional body overgrowth. American Journal of Medical Genetics, Part A, 173 (7), 1735-1738. https://doi.org/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
Sponsorship
National Cancer Institute, Grant number: K08CA193915; Alex’s Lemonade Stand Foundationfor Childhood Cancer; St. Baldrick’s Foundation
Identifiers
External DOI: https://doi.org/10.1002/ajmg.a.38266
This record's URL: https://www.repository.cam.ac.uk/handle/1810/264679
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