本文選題：石骨癥 + 頜骨骨髓炎��； 參考：《實用醫(yī)學(xué)雜志》2014年14期

【摘要】：目的:分析合并頜骨骨髓炎的石骨癥家系的臨床特點及遺傳特征。方法:對在山東省青島市發(fā)現(xiàn)的1個家系3例合并頜骨骨髓炎患者的臨床特點進行分析,調(diào)查家系成員,繪制遺傳圖譜并進行遺傳學(xué)分析。結(jié)果:該石骨癥家系成員4代共45例,每代均有患者出現(xiàn),共發(fā)現(xiàn)6例石骨癥患者�；颊呔谇嗌倌暌院蟪霈F(xiàn)臨床癥狀,首發(fā)癥狀出現(xiàn)時年齡跨度較大,從12~62歲不等;家系中所有患者血常規(guī)、血生化及肝、脾超聲檢查在正常范圍;先證者以頜骨骨髓炎為首診癥狀,老年患者均合并有頜骨骨髓炎。結(jié)論:該石骨癥家系存在著臨床表現(xiàn)和遺傳特性的異質(zhì)性,老年時發(fā)生頜骨骨髓炎為其共同臨床表現(xiàn);根據(jù)其臨床表現(xiàn)及家系特點分析,該家系符合常染色體顯性遺傳方式,本研究為相關(guān)致病基因的篩查、定位奠定基礎(chǔ)。
[Abstract]:Objective: to analyze the clinical and genetic characteristics of osteolithiasis associated with osteomyelitis. Methods: the clinical characteristics of 3 patients with osteomyelitis of jaw bone were analyzed in a family found in Qingdao, Shandong Province. The family members were investigated, genetic map was drawn and genetic analysis was carried out. Results: there were 45 patients in 4 generations of the family members of this disease, and 6 patients were found in each generation. All the patients developed clinical symptoms after adolescence, and the initial symptoms ranged from 1262.Blood routine examination, blood biochemistry, liver, spleen ultrasound examination were in the normal range. The first symptom of the proband was osteomyelitis of the jaws, and the elderly patients had osteomyelitis of the jaws. Conclusion: the clinical manifestations and genetic characteristics of the pedigree with osteomyelitis in the jaws are the common clinical manifestations, according to the clinical manifestations and family characteristics, the pedigree is in accordance with the autosomal dominant inheritance pattern. This study lays a foundation for screening and locating related pathogenic genes.
【作者單位】： 青島大學(xué)附屬醫(yī)院口腔頜面外科;
【分類號】：R782.32;R681

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