Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome?

Eur J Med Genet. 2012 Dec;55(12):705-7. doi: 10.1016/j.ejmg.2012.08.006. Epub 2012 Aug 31.

Abstract

A 2 year-and seven month-old male boy with vascular malformation and localized soft tissue hypotrophy is reported. Such presentation could represent the mildest end of the spectrum of 'inverse' Klippel-Trenaunay syndrome, a recently proposed disorder presenting with tissue hypotrophy as opposed to partial or complete limb overgrowth of classic Klippel-Trenaunay syndrome.

Publication types

  • Case Reports

MeSH terms

  • Buttocks / pathology
  • Child, Preschool
  • Humans
  • Klippel-Trenaunay-Weber Syndrome / diagnosis*
  • Lipodystrophy / congenital*
  • Lipodystrophy / diagnosis*
  • Magnetic Resonance Imaging
  • Male
  • Thigh / pathology
  • Vascular Malformations / diagnosis*