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Clin Genet. 2013 Oct;84(4):303-14. doi: 10.1111/cge.12173. Epub 2013 Jun 27.

The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.

Author information

1
Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, SE1 9RT, UK.

Abstract

Historically, primary lymphoedema was classified into just three categories depending on the age of onset of swelling; congenital, praecox and tarda. Developments in clinical phenotyping and identification of the genetic cause of some of these conditions have demonstrated that primary lymphoedema is highly heterogenous. In 2010, we introduced a new classification and diagnostic pathway as a clinical and research tool. This algorithm has been used to delineate specific primary lymphoedema phenotypes, facilitating the discovery of new causative genes. This article reviews the latest molecular findings and provides an updated version of the classification and diagnostic pathway based on this new knowledge.

KEYWORDS:

FLT4/VEGFR3; FOXC2; GATA2; GJC2; KIF11; VEGFC; generalized lymphatic dysplasia; lymphoedema; phenotyping

PMID:
23621851
DOI:
10.1111/cge.12173
[Indexed for MEDLINE]

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