Monomelic Maffucci syndrome

BMJ Case Rep. 2021 Mar 3;14(3):e239619. doi: 10.1136/bcr-2020-239619.

Abstract

Maffucci syndrome is a rare congenital, non-hereditary condition characterised by presence of multiple enchondromas and haemangiomas. Enchondromatous lesions affecting epiphysial growth plates can lead to angular deformities and leg-length discrepancy in the lower limb. We describe a 12-year-old girl with monomelic Maffucci syndrome affecting her left lower limb. She presented with progressive genu valgus deformity of her left knee. This caused her to limp during her gait and was a cosmetic dissatisfaction. The deformity affected her quality of life. She underwent a supracondylar distal femoral corrective osteotomy with a successful clinical outcome and restoration of her gait and cosmetic deformity.

Keywords: oncology; orthopaedic and trauma surgery.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Enchondromatosis* / diagnosis
  • Enchondromatosis* / diagnostic imaging
  • Female
  • Growth Plate
  • Humans
  • Leg Length Inequality
  • Osteotomy
  • Quality of Life