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Case Reports
. 2016 Jan 11:2016:bcr2015213651.
doi: 10.1136/bcr-2015-213651.

Lymphoedema-distichiasis syndrome

Nadine Sousa Marques  1 , Ana Miranda  1 , Sandra Barros  1 , Sónia Parreira  2
Affiliations
Case Reports

Lymphoedema-distichiasis syndrome

Nadine Sousa Marques et al. BMJ Case Rep. .
No abstract available

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Figures

Figure 1
Figure 1
Patient’s neck webbing.
Figure 2
Figure 2
Bilateral and asymmetrical lymphoedema, which the patient presented since puberty, with progressive worsening and episodes of cellulitis.
Figure 3
Figure 3
Inferior distichiasis.
Figure 4
Figure 4
Discrete inferior keratitis.
Figure 5
Figure 5
MRI, sagittal plane, of the thoracolumbar spine with spinal extradural arachnoid cysts (white arrows).
See this image and copyright information in PMC

References

    1. Yabuki S, Kikuchi S, Ikegawa S. Spinal extradural arachnoid cysts associated with distichiasis and lymphedema. Am J Med Genet A 2007;143A:884–7. - PubMed
    1. Brice G, Mansour S, Bell R et al. . Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 2002;39:478–83. doi:10.1136/jmg.39.7.478 - DOI - PMC - PubMed
    1. Kolin T, Johns KJ, Wadlington WB et al. . Hereditary lymphedema and distichiasis. Arch Ophthalmol 1991;109:980–1. doi:10.1001/archopht.1991.01080070092042 - DOI - PMC - PubMed

Publication types

Supplementary concepts