先天性股骨近端局限性缺陷伴腓侧半肢畸形1例并文献复习

A Case of Congenital Proximal Focal Femoral Deficiency Accompanied by Fibular Hemimelia and Literature Review

目的总结1例先天性股骨近端局限性缺陷(PFFD)伴腓侧半肢畸形(FH)患儿的临床特点并文献复习。方法对2020年8月20日山东大学附属儿童医院收治的1例先天性PFFD伴FH患儿进行体格检查、临床辅助检查、影像学检查,并行胫骨延长术治疗。结果患儿左大腿发育短小,左下肢较右下肢短缩约20 cm,左髋关节屈曲、外展、外旋畸形,左膝关节伸直受限,肢端血运可,右下肢、双上肢及脊柱未见异常。影像学检查左股骨短小、腓骨近端缺如。在全身麻醉下行左胫骨延长术后,患儿跛行症状较前改善。结论先天性PFFD在临床工作中较为罕见,诊断需要结合临床特点以及影像学检查,治疗原则是改善患儿肢体活动功能,既要遵循个性化治疗,又要有全局观念。

Objective To summarize the clinical characteristics of a case of congenital proximal focal femoral defect(PFFD)with fibular hemiplegia(FH)and conduct the literature review.Methods A case of congenital PFFD with FH admitted to Children′s Hospital Affiliated to Shandong University on Aug.20,2020 was examined by physical examination,clinical auxiliary examination,imaging examination,and tibial lengthening.Results The left thigh of the child develops short and small,with the left lower limb shortened by about 20 cm compared to the right lower limb.The left hip joint is deformed in flexion,abduction,and external rotation,and the extension of the left knee joint is limited.The limb blood supply is normal,and no abnormalities are found in the right lower limb,upper limbs,and spine.Imaging examination showed that the left femur was short and the proximal fibula was absent.After the left tibia lengthening surgery under general anesthesia,the symptoms of claudication in the child improved compared to before.Conclusion Congenital PFFD is relatively rare in clinical work.The diagnosis needs to be combined with clinical characteristics and imaging examination.The treatment principle is to improve the limb movement function of the patient,which should not only follow the individualized treatment,but also have the holistic view.