Verma Gopalkrishna G, Jain Vijay Kumar, Iyengar Karthikeyan P
Trauma and Orthopaedics, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK
Orthopaedics, Dr Ram Manohar Lohia Hospital PGIMER, New Delhi, Delhi, India.
BMJ Case Rep. 2021 Mar 3;14(3):e239619. doi: 10.1136/bcr-2020-239619.
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.
马富西综合征是一种罕见的先天性非遗传性疾病，其特征是存在多发性内生软骨瘤和血管瘤。影响骨骺生长板的内生软骨瘤病变可导致下肢成角畸形和腿长差异。我们描述了一名12岁患单肢马富西综合征的女孩，病变累及她的左下肢。她出现左膝进行性膝外翻畸形。这导致她步态跛行，且在外观上令人不满意。这种畸形影响了她的生活质量。她接受了股骨远端髁上矫正截骨术，临床结果成功，步态和外观畸形得以恢复。
