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不对称性肢体过度生长的命名与定义

Nomenclature and definition in asymmetric regional body overgrowth.

作者信息

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

机构信息

Division of Human Genetics, Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

出版信息

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

DOI:10.1002/ajmg.a.38266
PMID:28475229
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5932268/
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.

摘要

我们为先前描述为“孤立性半侧肥大”和“孤立性半侧增生”的发现指定了一个新术语“孤立性侧化过度生长”（ILO）。ILO被定义为在不存在公认的畸形、发育异常或形态学变异模式的情况下的侧化过度生长。ILO可能在遗传上具有异质性。需要进一步研究以确定更多潜在的遗传病因以及与目前未被认识的畸形模式的潜在关联。

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