目的:分析和总结自体股骨头结构植骨重建髋臼辅助全髋关节置换术(total hip arthroplasty,THA)治疗改良Crowe TypeⅣB型成人髋关节发育不良性脱位(developmental dysplasia of the hip,DDH)患者的临床疗效。方法:按照改良Crowe分型,选...目的:分析和总结自体股骨头结构植骨重建髋臼辅助全髋关节置换术(total hip arthroplasty,THA)治疗改良Crowe TypeⅣB型成人髋关节发育不良性脱位(developmental dysplasia of the hip,DDH)患者的临床疗效。方法:按照改良Crowe分型,选取山东大学齐鲁医院德州医院关节外科2015年8月至2023年3月收治的TypeⅣB型DDH患者26例,其中男25例,女1例,采用自体股骨头结构植骨重建髋臼辅助THA,记录患者手术时间、术中失血量、术中术后输血量、术后血红蛋白、手术相关并发症和骨愈合时间等,并行骨盆正位X线片了解假体位置、假体骨长入、假体松动以及骨愈合情况等,采用视觉模拟评分表(visual analogue scale,VAS)评价髋关节的疼痛不适,采用髋关节Harris评分和Western Ontario and McMaster Universities Osteoarthritis Index(WOMAC)来评价髋关节功能及临床疗效。结果:所有患者的平均随访时间(9.73±8.35)个月,术中出血平均为(715.38±143.37) mL,术中平均输血(415.38±282.41) mL,手术时间平均为(118.62±18.27) min,术后平均输血为(192.31±236.51) mL。所有患者转子下骨端、自体股骨头和假臼之间均骨愈合良好。髋关节VAS评分从术前6.73±0.45,至术后末次随访时VAS评分1.73±0.53,差异有统计学意义(P=0.000),髋关节活动度均较术前明显改善,髋关节Harris评分从术前24.27±1.66,至术后末次随访时Harris评分74.77±2.89,差异有统计学意义(P=0.000),WOMAC术前术后评分分别为130.08±5.72和67.85±3.23,差异均有统计学意义(P=0.000)。结论:自体股骨头结构植骨重建髋臼辅助THA治疗改良Crowe TypeⅣB型DDH,具有操作相对简单、固定牢固、手术相对安全和疗效确切的优点。展开更多
We report a case of a 32 year-old male, admitted for a lytic lesion of the distal femur. One month after the first X-ray, clinical and imaging deterioration was evident. Open biopsy revealed fibrous dysplasia. Three m...We report a case of a 32 year-old male, admitted for a lytic lesion of the distal femur. One month after the first X-ray, clinical and imaging deterioration was evident. Open biopsy revealed fibrous dysplasia. Three months later, the lytic lesion had spread to the whole distal third of the femur reaching the articular cartilage. The malignant clinical and imaging features necessitated excision of the lesion and reconstruction with a custom-made total knee arthroplasty. Intraoperatively, no obvious soft tissue infiltration was evident. Nevertheless, an excision of the distal 15.5 cm of the femur including 3.0 cm of the surrounding muscles was finally performed. The histological examination of the excised specimen revealed central low-grade osteosarcoma. Based on the morphological features of the excised tumor, allied to the clinical findings, the diagnosis of low-grade central osteosarcoma was finally made although characters of a fibrous dysplasia were apparent. Central low-grade osteosarcoma is a rare, well-differentiated sub-type of osteosarcoma, with clinical, imaging, and histological features similar to benign tumours. Thus, initial misdiagnosis is usual with the condition commonly mistaken for fibrous dysplasia. Central low-grade osteosarcoma is usually treated with surgery alone, with rare cases of distal metastases. However, regional recurrence is quite frequent after close margin excision.展开更多
Background: Reports of the efficacy of open reduction and Zigzag Osteotomy combined Fibular Allograft (ZOFA) for developmental dysplasia of the hip. The purposes of this study were to evaluate the long-term outcomes a...Background: Reports of the efficacy of open reduction and Zigzag Osteotomy combined Fibular Allograft (ZOFA) for developmental dysplasia of the hip. The purposes of this study were to evaluate the long-term outcomes and complications after surgery. Methods: We performed a retrospective match-controlled study in which 158 patients had 181 hips with developmental dysplasia of the hip. Radiographs were found of acetabular index, height of dislocation, Tönnis grade, abduction angle in the spica cast, and Severin grade. At final follow-up, deformity of femoral head or neck or acetabulum was evaluated according to the Severin. Avascular necrosis was rated according to Kalamchi. Clinical evaluation was made according to modified McKay criteria. Results: Between 2009 and 2012, 133 girls (84.2%) and 25 boys (15.8%) with developmental dysplasia of the hip underwent open reduction and ZOFA;135 (85.4%) were unilateral, and 23 (14.6%) were bilateral. Patients were divided into 2 groups: group 1 included 54 patients (62 hips) aged 12 months - ≤18 months and group 2 included 84 patients (119 hips), aged >18 months - ≤36 months. According to Tönnis system: type 3 appeared in 127 hips (70.2%), and Type 4 in 54 hip (29.8%). The anterior approach was used to expose inner table of the ilium and ZOFA in all cases. Acetabular index was improved;preoperation was 42.95°, and latest follow-up 17.26°. The Kirschner Wires (KW) were not used to fix the fibular allograft at the pelvic osteotomy site. All of the fibular allografts were completely incorporated in mean time of 14 weeks (range, 12 weeks - 17 weeks) post-surgery. Clinical evaluation according to modified McKay criteria: satisfactory result (excellent and good) was achieved in 141 hips (77.9%). Avascular Necrosis (AVN) happened in 61 hips (33.7%), redislocation in 18 hips (9.9%), coxa vara in 4 hips (2.2%), trendelenburg gait in 4 hips (2.2%), and supracondylar femoral fractures in 2 hips (1.1%). Conclusions: On the basis of this study, ZOFA was strength and graft was not resorption, graft problems;without medial displacement of the distal fragment. Acetabular index was improved, without KW problem. Surgical technique with ZOFA did not expose outer table of the illium, limiting abductor muscle injury with negative trendelenburg gait;on the other hand, the blood loss from this procedure is acceptable. Some complications have been seen in this study: AVN, redislocation, coxa magna, coxa vara, trendelenburg gait, and distal femoral fracture.展开更多
Purpose: Incidental bone lesions are a challenge for the specialist, who has to give recommendations for further management. This review of our cases will assist in the decision whether the lesion can be “neglected”...Purpose: Incidental bone lesions are a challenge for the specialist, who has to give recommendations for further management. This review of our cases will assist in the decision whether the lesion can be “neglected”, needs further active follow-up or direct initiation of treatment. Patients and Methods: 153 cases of incidental bone findings were presented to our musculoskeletal tumor service for evaluation from July 2008 through June 2021. 73 of them were cartilaginous tumors and 63 of these were diagnosed as enchondroma of a long bone based on X-Ray and MRI. Results: Follow-up imaging of the enchondroma patients was available for 35 patients at 1 to 13 years (mean 4.3 y), with no change in size except for one femoral diaphyseal enchondroma with increasing diameter from age 18 to 20 years. 14 additional patients answered written contact stating that they remained asymptomatic at 2 to 12 years (mean 5.6 y). None of the patients has been reported to the Swiss Confoederation Cancer Registry to have developed malignancy. Among the 10 other cartilaginous tumors were one chondrosarcoma grade II exhibiting different imaging, 3 non-long-bone localizations (pelvis, scapula and rib), 2 Ollier-type enchondromas, and 2 osteochondromas. Incidental findings other than cartilaginous tumors were fibrous dysplasia (n = 31), non-ossifying fibroma (n = 31) and 18 other “sporadic” entities. Conclusions: Incidentally found enchondromas not exhibiting aggressive features need no systematic follow-up and patients can be “discharged” with the advice to present, if symptoms would develop. This also applies to fibrous dysplasia and the other sporadic lesions. 6 cases with other diagnoses needed specific treatment.展开更多
<strong>Background:</strong> <span style="font-family:;" "="">Fibrous dysplasia is an uncommon skeletal disorder in which normal bone and marrow are replaced with fibro-osseo...<strong>Background:</strong> <span style="font-family:;" "="">Fibrous dysplasia is an uncommon skeletal disorder in which normal bone and marrow are replaced with fibro-osseous tissue. The disease comprises 2.5% of all bone tumors and 7.5% of all benign bone neoplasm. It is the progressive, slowly developing disease and the optimum treatment remains unclear in many cases. <b>Aim: </b>In this study, the authors report their experience in the surgical treatment of four cases of craniofacial fibrous dysplasia. <b>Cases presentation:</b> The study involved 4 patients with craniofacial fibrous dysplasia. There were 3 men and a woman. The patients were 10, 17, 20 and 8 years old. No patient had a focal neurological deficit. The CT scan appearance was compatible with Fibrous dysplasia in all patients. The site of disease was frontal in one case and parietal in the other 3 cases. Cosmetic surgical treatment was performed in all patients. Cranioplasty was performed in one patient and planned for the other three. <b>Conclusion:</b> Fibrous Dysplasia is a benign slow growing disease that may cause as well as clinical symptom and aesthetical discomfort. Radical resection, if possible, is the only technique to obtain resolution of the disease.</span>展开更多
繁茂性牙骨质-骨结构不良(florid cemento-osseous dysplasia,FCOD)是一种非肿瘤性纤维-骨病变,通常无症状缓慢生长于颌骨承牙区。本文报道繁茂性牙骨质-骨结构不良伴发单纯性骨囊肿(simple bone cyst,SBC)1例,并对其影像学表现进行着...繁茂性牙骨质-骨结构不良(florid cemento-osseous dysplasia,FCOD)是一种非肿瘤性纤维-骨病变,通常无症状缓慢生长于颌骨承牙区。本文报道繁茂性牙骨质-骨结构不良伴发单纯性骨囊肿(simple bone cyst,SBC)1例,并对其影像学表现进行着重讨论。展开更多
目的利用计算机仿真技术模拟发育性髋关节脱位(developmental dislocation of the hip,DDH)患儿不同股骨颈前倾角时股骨的应力分布,以明确DDH患儿股骨颈前倾角矫正的意义,并指导手术方案的制定。方法回顾性分析2021年6月在山西省儿童医...目的利用计算机仿真技术模拟发育性髋关节脱位(developmental dislocation of the hip,DDH)患儿不同股骨颈前倾角时股骨的应力分布,以明确DDH患儿股骨颈前倾角矫正的意义,并指导手术方案的制定。方法回顾性分析2021年6月在山西省儿童医院骨科住院治疗的1例右侧DDH患儿影像学资料。患儿女,6岁,提取正常侧(左侧)髋关节股骨扫描数据,通过三维CT扫描重建股骨三维模型,分别设计股骨颈前倾角35°、25°、15°时的力学仿真模型,通过有限元软件进行仿真计算,观察不同股骨颈前倾角度时股骨的生物力学分布。结果DDH患儿股骨三维模型上股骨颈前倾角为35°、25°、15°时股骨模型受到的最大应力分别为21.18 MPa、17.36 MPa、9.85 MPa。股骨颈前倾角为35°时,股骨干应力集中;股骨颈前倾角为25°时,股骨远端骨骺的应力降低25%;股骨颈前倾角为15°时,股骨应力主要集中在股骨头颈至股骨干上段。股骨颈前倾角为35°时,位移大于1 mm的区间是股骨头至股骨干中段;股骨颈前倾角为25°时,位移大于1 mm的区间是股骨头至股骨干中上端;股骨颈前倾角为15°时,位移大于1 mm的区间是股骨头至股骨颈。股骨颈前倾角为35°、25°、15°时其股骨远端骨骺的最大位移分别为0.0041 mm、0.0018 mm、0.0012 mm。结论股骨颈前倾角对DDH患儿的股骨力学有着重要影响。股骨的应力分布随着股骨颈前倾角改变而改变,股骨颈前倾角度增大,股骨干应力逐渐增加,在股骨干位置出现应力集中现象;股骨颈前倾角越大,应力传递在股骨干区域受到的遮挡效应越大,股骨远端骨骺在横断面的变形也增加。股骨颈前倾角为15°时股骨应力分布较为理想。展开更多
<strong>Background:</strong> Fibrous dysplasia mainly presents in its monostotic form in the cranio-facial region with serious cosmetic disfigurement and functional derangement of the affected and adjacent...<strong>Background:</strong> Fibrous dysplasia mainly presents in its monostotic form in the cranio-facial region with serious cosmetic disfigurement and functional derangement of the affected and adjacent structures putting both patient and the attending surgeon in great dilemma. Surgical treatment is the only rewarding and generally accepted treatment option, however, controversy over the surgical technique to be adopted still exists. While in the past, surgeons generally adopted conservative shaving or contouring technique, over the recent years, advocates of radical surgery are winning more disciples. <strong>Objective:</strong> To highlight the locally destructive, functionally degrading nature of a neglected or poorly excised (shaved) lesion in patients and highlight the outcome of total excision and surgical technique adopted to obviate the need for autologous bone grafting and two-staged surgery. <strong>Subjects and Method:</strong> We present case series of three patients with giant monostotic fibrous dysplasia of the maxilla, surgically treated in our Centre, who were part of a total of eight cases managed over the past fifteen years in our department of Ear, Nose and Throat-Head and Neck Surgery. The pre-operative clinical assessment, relevant investigations and post-operative outcome are presented. Our surgical technique is highlighted. All the patients had unilateral lesion of the maxilla with gross cosmetic and functional defects. Two of the patients had ischaemic (pressure) atrophy of the cheek soft tissue and skin leading to skin metaplastic changes including leukoplakia, hyperpigmentation. Post-operative follow-up showed satisfactory cosmetic outcome and significant reversal of malocclusion and dental anarchy. There was no recorded recurrence throughout the follow-up period ranging from four to eleven years. Nasal airway was re-established bilaterally in all the cases. <strong>Conclusion:</strong> Total or near total excision surgical technique with periosteal preservation is our treatment of choice in the management of monostotic cranio-facial fibrous dysplasia. Given the fact that the growth of the tumours often does not cease after puberty against general belief, shaving or contouring technique should be relegated to the background. Our technique of no grafting which reduced cost and morbidity to the patient should be encouraged.展开更多
骨纤维结构不良(fibrous dysplasia of bone,FD)是一种非遗传性疾病,其特点是纤维和骨组织的肿瘤样增生,目前治疗主要以手术为主。本文报道了1例男性股骨近端大范围FD合并病理性骨折的病例,其FD侵袭范围涉及股骨头、股骨颈、股骨粗隆间...骨纤维结构不良(fibrous dysplasia of bone,FD)是一种非遗传性疾病,其特点是纤维和骨组织的肿瘤样增生,目前治疗主要以手术为主。本文报道了1例男性股骨近端大范围FD合并病理性骨折的病例,其FD侵袭范围涉及股骨头、股骨颈、股骨粗隆间及股骨小转子下部近端,经病灶刮除+同种异体腓骨条支撑植骨+打压植骨+锁定接骨板内固定术治疗后,患者下肢生理长度及颈干角恢复,在25个月的随访中,下肢功能活动恢复情况良好,未见患肢疼痛或FD复发。展开更多
BACKGROUND McCune-Albright syndrome(MAS)is extremely rare clinically.We here report a case of MAS with severe symptoms that have not been reported previously.CASE SUMMARY A 10-year-old boy attended our outpatient clin...BACKGROUND McCune-Albright syndrome(MAS)is extremely rare clinically.We here report a case of MAS with severe symptoms that have not been reported previously.CASE SUMMARY A 10-year-old boy attended our outpatient clinic due to craniofacial malformations found two years ago.He underwent temporal bone computed tomography and digital radiography photography.Based on a literature review combined with the patient's medical history and imaging examination findings,he was diagnosed with multiple fibrous dysplasia of bone.As the clinical symptoms related to MAS in this patient were not obvious,he was only followed up and not given any special treatment.CONCLUSION The unique clinical manifestations in this MAS patient may be related to mutations in the GNAS gene.展开更多
文摘We report a case of a 32 year-old male, admitted for a lytic lesion of the distal femur. One month after the first X-ray, clinical and imaging deterioration was evident. Open biopsy revealed fibrous dysplasia. Three months later, the lytic lesion had spread to the whole distal third of the femur reaching the articular cartilage. The malignant clinical and imaging features necessitated excision of the lesion and reconstruction with a custom-made total knee arthroplasty. Intraoperatively, no obvious soft tissue infiltration was evident. Nevertheless, an excision of the distal 15.5 cm of the femur including 3.0 cm of the surrounding muscles was finally performed. The histological examination of the excised specimen revealed central low-grade osteosarcoma. Based on the morphological features of the excised tumor, allied to the clinical findings, the diagnosis of low-grade central osteosarcoma was finally made although characters of a fibrous dysplasia were apparent. Central low-grade osteosarcoma is a rare, well-differentiated sub-type of osteosarcoma, with clinical, imaging, and histological features similar to benign tumours. Thus, initial misdiagnosis is usual with the condition commonly mistaken for fibrous dysplasia. Central low-grade osteosarcoma is usually treated with surgery alone, with rare cases of distal metastases. However, regional recurrence is quite frequent after close margin excision.
文摘Background: Reports of the efficacy of open reduction and Zigzag Osteotomy combined Fibular Allograft (ZOFA) for developmental dysplasia of the hip. The purposes of this study were to evaluate the long-term outcomes and complications after surgery. Methods: We performed a retrospective match-controlled study in which 158 patients had 181 hips with developmental dysplasia of the hip. Radiographs were found of acetabular index, height of dislocation, Tönnis grade, abduction angle in the spica cast, and Severin grade. At final follow-up, deformity of femoral head or neck or acetabulum was evaluated according to the Severin. Avascular necrosis was rated according to Kalamchi. Clinical evaluation was made according to modified McKay criteria. Results: Between 2009 and 2012, 133 girls (84.2%) and 25 boys (15.8%) with developmental dysplasia of the hip underwent open reduction and ZOFA;135 (85.4%) were unilateral, and 23 (14.6%) were bilateral. Patients were divided into 2 groups: group 1 included 54 patients (62 hips) aged 12 months - ≤18 months and group 2 included 84 patients (119 hips), aged >18 months - ≤36 months. According to Tönnis system: type 3 appeared in 127 hips (70.2%), and Type 4 in 54 hip (29.8%). The anterior approach was used to expose inner table of the ilium and ZOFA in all cases. Acetabular index was improved;preoperation was 42.95°, and latest follow-up 17.26°. The Kirschner Wires (KW) were not used to fix the fibular allograft at the pelvic osteotomy site. All of the fibular allografts were completely incorporated in mean time of 14 weeks (range, 12 weeks - 17 weeks) post-surgery. Clinical evaluation according to modified McKay criteria: satisfactory result (excellent and good) was achieved in 141 hips (77.9%). Avascular Necrosis (AVN) happened in 61 hips (33.7%), redislocation in 18 hips (9.9%), coxa vara in 4 hips (2.2%), trendelenburg gait in 4 hips (2.2%), and supracondylar femoral fractures in 2 hips (1.1%). Conclusions: On the basis of this study, ZOFA was strength and graft was not resorption, graft problems;without medial displacement of the distal fragment. Acetabular index was improved, without KW problem. Surgical technique with ZOFA did not expose outer table of the illium, limiting abductor muscle injury with negative trendelenburg gait;on the other hand, the blood loss from this procedure is acceptable. Some complications have been seen in this study: AVN, redislocation, coxa magna, coxa vara, trendelenburg gait, and distal femoral fracture.
文摘Purpose: Incidental bone lesions are a challenge for the specialist, who has to give recommendations for further management. This review of our cases will assist in the decision whether the lesion can be “neglected”, needs further active follow-up or direct initiation of treatment. Patients and Methods: 153 cases of incidental bone findings were presented to our musculoskeletal tumor service for evaluation from July 2008 through June 2021. 73 of them were cartilaginous tumors and 63 of these were diagnosed as enchondroma of a long bone based on X-Ray and MRI. Results: Follow-up imaging of the enchondroma patients was available for 35 patients at 1 to 13 years (mean 4.3 y), with no change in size except for one femoral diaphyseal enchondroma with increasing diameter from age 18 to 20 years. 14 additional patients answered written contact stating that they remained asymptomatic at 2 to 12 years (mean 5.6 y). None of the patients has been reported to the Swiss Confoederation Cancer Registry to have developed malignancy. Among the 10 other cartilaginous tumors were one chondrosarcoma grade II exhibiting different imaging, 3 non-long-bone localizations (pelvis, scapula and rib), 2 Ollier-type enchondromas, and 2 osteochondromas. Incidental findings other than cartilaginous tumors were fibrous dysplasia (n = 31), non-ossifying fibroma (n = 31) and 18 other “sporadic” entities. Conclusions: Incidentally found enchondromas not exhibiting aggressive features need no systematic follow-up and patients can be “discharged” with the advice to present, if symptoms would develop. This also applies to fibrous dysplasia and the other sporadic lesions. 6 cases with other diagnoses needed specific treatment.
文摘<strong>Background:</strong> <span style="font-family:;" "="">Fibrous dysplasia is an uncommon skeletal disorder in which normal bone and marrow are replaced with fibro-osseous tissue. The disease comprises 2.5% of all bone tumors and 7.5% of all benign bone neoplasm. It is the progressive, slowly developing disease and the optimum treatment remains unclear in many cases. <b>Aim: </b>In this study, the authors report their experience in the surgical treatment of four cases of craniofacial fibrous dysplasia. <b>Cases presentation:</b> The study involved 4 patients with craniofacial fibrous dysplasia. There were 3 men and a woman. The patients were 10, 17, 20 and 8 years old. No patient had a focal neurological deficit. The CT scan appearance was compatible with Fibrous dysplasia in all patients. The site of disease was frontal in one case and parietal in the other 3 cases. Cosmetic surgical treatment was performed in all patients. Cranioplasty was performed in one patient and planned for the other three. <b>Conclusion:</b> Fibrous Dysplasia is a benign slow growing disease that may cause as well as clinical symptom and aesthetical discomfort. Radical resection, if possible, is the only technique to obtain resolution of the disease.</span>
文摘<strong>Background:</strong> Fibrous dysplasia mainly presents in its monostotic form in the cranio-facial region with serious cosmetic disfigurement and functional derangement of the affected and adjacent structures putting both patient and the attending surgeon in great dilemma. Surgical treatment is the only rewarding and generally accepted treatment option, however, controversy over the surgical technique to be adopted still exists. While in the past, surgeons generally adopted conservative shaving or contouring technique, over the recent years, advocates of radical surgery are winning more disciples. <strong>Objective:</strong> To highlight the locally destructive, functionally degrading nature of a neglected or poorly excised (shaved) lesion in patients and highlight the outcome of total excision and surgical technique adopted to obviate the need for autologous bone grafting and two-staged surgery. <strong>Subjects and Method:</strong> We present case series of three patients with giant monostotic fibrous dysplasia of the maxilla, surgically treated in our Centre, who were part of a total of eight cases managed over the past fifteen years in our department of Ear, Nose and Throat-Head and Neck Surgery. The pre-operative clinical assessment, relevant investigations and post-operative outcome are presented. Our surgical technique is highlighted. All the patients had unilateral lesion of the maxilla with gross cosmetic and functional defects. Two of the patients had ischaemic (pressure) atrophy of the cheek soft tissue and skin leading to skin metaplastic changes including leukoplakia, hyperpigmentation. Post-operative follow-up showed satisfactory cosmetic outcome and significant reversal of malocclusion and dental anarchy. There was no recorded recurrence throughout the follow-up period ranging from four to eleven years. Nasal airway was re-established bilaterally in all the cases. <strong>Conclusion:</strong> Total or near total excision surgical technique with periosteal preservation is our treatment of choice in the management of monostotic cranio-facial fibrous dysplasia. Given the fact that the growth of the tumours often does not cease after puberty against general belief, shaving or contouring technique should be relegated to the background. Our technique of no grafting which reduced cost and morbidity to the patient should be encouraged.
文摘骨纤维结构不良(fibrous dysplasia of bone,FD)是一种非遗传性疾病,其特点是纤维和骨组织的肿瘤样增生,目前治疗主要以手术为主。本文报道了1例男性股骨近端大范围FD合并病理性骨折的病例,其FD侵袭范围涉及股骨头、股骨颈、股骨粗隆间及股骨小转子下部近端,经病灶刮除+同种异体腓骨条支撑植骨+打压植骨+锁定接骨板内固定术治疗后,患者下肢生理长度及颈干角恢复,在25个月的随访中,下肢功能活动恢复情况良好,未见患肢疼痛或FD复发。
文摘BACKGROUND McCune-Albright syndrome(MAS)is extremely rare clinically.We here report a case of MAS with severe symptoms that have not been reported previously.CASE SUMMARY A 10-year-old boy attended our outpatient clinic due to craniofacial malformations found two years ago.He underwent temporal bone computed tomography and digital radiography photography.Based on a literature review combined with the patient's medical history and imaging examination findings,he was diagnosed with multiple fibrous dysplasia of bone.As the clinical symptoms related to MAS in this patient were not obvious,he was only followed up and not given any special treatment.CONCLUSION The unique clinical manifestations in this MAS patient may be related to mutations in the GNAS gene.
