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作 者:Xin Lin Ning-Yu Feng Yu-Jin Lei
机构地区:[1]Department of Otolaryngology,The Second Affiliated Clinical College of Ningxia Medical University,Yinchuan 750000,Ningxia Hui Autonomous Region,China [2]Department of Otolaryngology,The First People's Hospital of Yinchuan,Yinchuan 750000,Ningxia Hui Autonomous Region,China
出 处:《World Journal of Clinical Cases》2023年第28期6817-6822,共6页世界临床病例杂志
摘 要: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.
关 键 词:McCune-Albright syndrome Multiple fibrous dysplasia of bone GNAS gene Genetic testing Case report
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