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Case report
Monomelic Maffucci syndrome
  1. Gopalkrishna G Verma1,
  2. Vijay Kumar Jain2 and
  3. Karthikeyan P Iyengar3
  1. 1Trauma and Orthopaedics, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK
  2. 2Orthopaedics, Dr Ram Manohar Lohia Hospital PGIMER, New Delhi, Delhi, India
  3. 3Trauma and Orthopaedics, Southport and Ormskirk Hospital NHS Trust, Southport, UK
  1. Correspondence to Gopalkrishna G Verma; gopal134{at}yahoo.co.uk

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.

  • orthopaedic and trauma surgery
  • oncology

https://doi.org/10.1136/bcr-2020-239619

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    Footnotes

    • Contributors GGV was involved in conceptualisation and writing of the original draft of the manuscript, literature search, planning, conduct and editing. KPI and VKJ were involved in literature search, review and editing. All authors have read and agreed the final draft submitted.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.