Klippel-Trelaunay-Weber syndrome
Klippel-Trelaunay-Weber syndrome is a vascular malformation characterised by local overgrowth of soft tissue and bone in an extremity, or of a more extensive area. It is rare.
Presentation is variable, but major features include:
- dilated, varicose veins - often in large vessels running down the lateral side of the leg
- cutaneous angiomata and port wine stains - most extensive over the trunk and extremities; always present
Some cases show marked osteoporosis in the involved extremity. There may be syndactylism or polydactylism.
The heart is normal and the Branham's bradycardic respone test negative. It may resemble Robertson's giant limb.
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