期刊文献+
共找到2篇文章
< 1 >
每页显示 20 50 100
Surgical treatment of femoral deformities in polyostotic fibrous dysplasia and McCune-Albright syndrome:A literature review 被引量:2
1
作者 Giulio Gorgolini Alessandro Caterini +3 位作者 Lorenzo Nicotra Fernando De Maio Kristian Efremov Pasquale Farsetti 《World Journal of Orthopedics》 2022年第3期329-338,共10页
BACKGROUND Surgical correction of femoral deformities in polyostotic fibrous dysplasia(PFD)or McCune-Albright syndrome(MAS),such as coxa vara or shepherd’s crook deformity,is a challenge.AIM To evaluate the treatment... BACKGROUND Surgical correction of femoral deformities in polyostotic fibrous dysplasia(PFD)or McCune-Albright syndrome(MAS),such as coxa vara or shepherd’s crook deformity,is a challenge.AIM To evaluate the treatment of patients with femoral deformities caused by PDF or MAS treated by osteotomies and stabilized with different methods,by analyzing the most relevant studies on the topic.METHODS A literature search was performed in Medline database(PubMed).Articles were screened for patients affected by PFD or MAS surgically managed by osteotomies and stabilized with different methods.RESULTS The initial search produced 184 studies,with 15 fulfilling the eligibility criteria of our study.Selected articles(1987-2019)included 111 patients overall(136 femurs).CONCLUSION Based on our results,the preferred method to stabilize corrective osteotomies is intramedullary nailing with neck cross pinning.When the deformity is limited to the proximal part of the femur,a screw or blade plate may be used,although there is a high risk of fracture below the plate.When the femur is entirely involved,a two-stage procedure may be considered. 展开更多
关键词 polyostotic fibrous dysplasia McCune-Albright syndrome Coxa vara Shepherd’s crook deformity Femoral osteotomy Intramedullary nailing
下载PDF
Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations:A case report
2
作者 Tiao Lin Xin-Yu Li +8 位作者 Chang-Ye Zou Wei-Wei Liu Jun-Fan Lin Xin-Xin Zhang Si-Qi Zhao Xian-Biao Xie Gang Huang Jun-Qiang Yin Jing-Nan Shen 《World Journal of Clinical Cases》 SCIE 2020年第23期6197-6205,共9页
BACKGROUND Polyostotic fibrous dysplasia(PFD)is an uncommon developmental bone disease in which normal bone and marrow are replaced by pseudotumoral tissue.The etiology of PFD is unclear,but it is generally thought to... BACKGROUND Polyostotic fibrous dysplasia(PFD)is an uncommon developmental bone disease in which normal bone and marrow are replaced by pseudotumoral tissue.The etiology of PFD is unclear,but it is generally thought to be caused by sporadic,post-zygotic mutations in the GNAS gene.Herein,we report the case of a young female with bone pain and lesions consistent with PFD,unique physical findings,and gene mutations.CASE SUMMARY A 27-year-old female presented with unbearable bone pain in her left foot for 4 years.Multiple bone lesions were detected by radiographic examinations,and a diagnosis of PFD was made after a biopsy of her left calcaneus with symptoms including pre-axial polydactyly on her left hand and severe ophthalmological problems such as high myopia,vitreous opacity,and choroidal atrophy.Her serum cortisol level was high,consistent with Cushing syndrome.Due to consanguineous marriage of her grandparents,boosted whole exome screening was performed to identify gene mutations.The results revealed mutations in HSPG2 and RIMS1,which may be contributing factors to her unique findings.CONCLUSION The unique findings in this patient with PFD may be related to mutations in the HSPG2 and RIMS1 genes. 展开更多
关键词 polyostotic fibrous dysplasia Genetic mutation Hypercortisolism Drug resistance Ophthalmological problems Case report
下载PDF
上一页 1 下一页 到第
使用帮助 返回顶部