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Monomelic Maffucci syndrome.

Gopalkrishna G Verma1, Vijay Kumar Jain2, Karthikeyan P Iyengar3

  • 1Trauma and Orthopaedics, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK gopal134@yahoo.co.uk.

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Summary
This summary is machine-generated.

Maffucci syndrome, a rare condition causing bone and blood vessel tumors, can lead to limb deformities. Surgical correction of genu valgus in a 12-year-old girl successfully restored her gait and appearance.

Keywords:
oncologyorthopaedic and trauma surgery

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Area of Science:

  • Orthopedics
  • Medical Genetics
  • Pediatric Surgery

Background:

  • Maffucci syndrome is a rare, non-hereditary congenital disorder.
  • It is characterized by multiple enchondromas and hemangiomas.
  • Enchondromas can affect epiphyseal growth plates, causing angular deformities and limb length discrepancies.

Observation:

  • A 12-year-old girl presented with monomelic Maffucci syndrome affecting her left lower limb.
  • She had a progressive genu valgus deformity of her left knee, impacting her gait and causing cosmetic concerns.
  • The deformity significantly affected her quality of life.

Findings:

  • The patient underwent a supracondylar distal femoral corrective osteotomy.
  • The surgical intervention resulted in a successful clinical outcome.

Implications:

  • Corrective osteotomy can effectively address genu valgus deformities in Maffucci syndrome.
  • Restoration of normal gait and cosmetic appearance improves the patient's quality of life.
  • This case highlights the importance of surgical intervention for limb deformities in rare congenital conditions.