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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[Variant of Klippel-Trenaunay syndrome. A case report]
K Irlbacher1, K T Hoffmann, F Behse
1Neurologische Klinik, Charite Campus Virchow Klinikum, Humboldt-Universität Berlin.
Rontgenpraxis; Zeitschrift Fur Radiologische Technik
|August 11, 2000
Abstract:
Klippel-Trenaunay-Syndrome is a rare congenital vascular malformation with cutaneous naevi, varicose veins and limb hypertrophy. We report a patient with a variant of this syndrome presenting with extensive varicose veins and arteriovenous shunts within the left arm, bony hypotrophy of the left hand, mucocutaneous melanin spots in the face and thrombocytopenia. Imaging techniques play a major role in making a diagnosis in angiophakomatoses.

