An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report

BMC Pediatr. 2019 Apr 6;19(1):95. doi: 10.1186/s12887-019-1480-0.

Abstract

Background: Klippel-Trénaunay syndrome (KTS) is a rare congenital condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft tissue hypertrophy.

Case presentation: Here we report the first case of a one-day-old male with KTS presenting with crossed-bilateral limb hypertrophy and post-axial polydactyly.

Conclusion: This case serves to highlight the variable presentation and multiple problems faced by patients with KTS and why multidisciplinary management is mandatory.

Keywords: Cross-bilateral limb involvement; Hypertrophy; Klippel-Trénaunay syndrome; Polydactyly; Port wine stain; Vascular malformation.

Publication types

  • Case Reports

MeSH terms

  • Fingers / abnormalities*
  • Humans
  • Hypertrophy
  • Infant, Newborn
  • Klippel-Trenaunay-Weber Syndrome*
  • Lower Extremity Deformities, Congenital
  • Male
  • Polydactyly*
  • Toes / abnormalities*
  • Upper Extremity Deformities, Congenital

Supplementary concepts

  • Polydactyly, Postaxial