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. 2009:2009:bcr07.2008.0586.
doi: 10.1136/bcr.07.2008.0586. Epub 2009 Mar 20.

Lymphatic system anomalies in Crouzon syndrome

Pierre Bourgeois  1 , Stéphane Moniotte
Affiliations

Lymphatic system anomalies in Crouzon syndrome

Pierre Bourgeois et al. BMJ Case Rep. 2009.

Abstract

Crouzon syndrome is a rare genetic disorder characterised mainly by distinctive malformations of the skull and facial region and caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. No study reported on oedemas related to lymphatic system abnormalities in these patients. A case of Crouzon syndrome displaying classic facial anomalies but also with bilateral lower limb oedema is reported in whom lymphoscintigraphic investigation of the limbs clearly delineated the presence of lymphatic system anomalies.

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Figures

Figure 1
Figure 1
Lymphoscintigraphic investigation of our subject: from left to the right, whole body imaging in anterior views (from the feet, bottom, to the head, top) obtained after 30 min of no movement of feet and toes (A), after 5 min of tiptoeing (B) and after 1 h of walking (C).
See this image and copyright information in PMC

References

    1. Fries PD, Katowitz JA. Congenital craniofacial anomalies of ophthalmic importance. Surv Ophthalmol 1990; 35: 87–119 - PubMed
    1. Oldridge M, Wilkie AO, Slaney SF, et al. Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Hum Mol Genet 1995; 4: 1077–82 - PubMed
    1. Bourgeois P, Munck D, Sales F. Anomalies of thoracic lymph duct drainage demonstrated by lymphoscintigraphy and review of the literature about these anomalies. Eur J Surg Oncol 2008; 34: 553–5 - PubMed
    1. Kubo H, Cao R, Brakenhielm E, et al. Blockade of vascular endothelial growth factor receptor-3 signaling inhibits fibroblast growth factor-2-induced lymphangiogenesis in mouse cornea. Proc Natl Acad Sci USA 2002; 99: 8868–73 - PMC - PubMed
    1. Chang LK, Garcia-Cardena G, Farnebo F, et al. Dose-dependent response of FGF-2 for lymphangiogenesis. Proc Natl Acad Sci USA 2004; 101: 11658–63 - PMC - PubMed

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