期刊文献+

锁骨颅骨发育不全综合征的初步研究 被引量:1

A pilot study of cleidocranial dysplasia
原文传递
导出
摘要 目的探讨锁骨颅骨发育不全综合征(CCD)的临床和影像学特征,为诊断和治疗该疾病提供依据。方法对1个锁骨颅骨发育不全综合征的家族进行临床、X片及锥形束CT检查,分析其特征性表现。结果锁骨颅骨发育不全综合征的显著特征主要为头大面小,囟门延迟闭合,锁骨不同程度发育不全,恒牙发育不良,存在多生牙等一系列骨骼系统改变。结论锁骨颅骨发育不全综合征的临床和影像学特征十分典型,早期诊断和正确治疗该疾病,对患者生活质量的改善十分重要。 Objective To investigate the clinical and imaging features of cleidocranial dysplasia(CCD) to supply useful information for diagnosis and treatment. Methods The clinical symptoms、X-ray and cone-beam CT findings of a CCD family were examined,and analysed characteristic manifestations.Results The prominent features of CCD are big head sall face,delayed closure of cranial fontanels,clavicular hypoplasia or aplasia,dysplasia of permanet teeth and supernumerary teeth. Conclusions The clinical and imaging features of cleidocranial dysplasia are very characteristic,early diagnosis and proper treatment are important for improving the living quality of patients.
作者 赵媛 李辉
出处 《中国城乡企业卫生》 2015年第5期1-2,6,共3页 Chinese Journal of Urban and Rural Enterprise Hygiene
关键词 锁骨颅骨发育不全综合征 家系 锥形束CT 骨骼发育障碍 Cleidocranial dysplasia Family Cone-beam CT Growing disorder of the bone
  • 相关文献

参考文献11

  • 1P Bhargava,S Khan,R Sharma,et al.Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern[J].Ann Med Health Sci Res,2014,4(2):152-154.
  • 2Singh S1,Sharma S2,Singh H,et al.Cleidocranial dysplasia:a case report illustrating diagnostic clinical and radiological findings[J].J Clin Diagn Res,2014,8(6):19-20.
  • 3Lee KE,Seymen F,Ko J,et al.RUNX2 mutations in cleidocranial dysplasia[J].Genet Mol Res,2013,12(4):4567-4574.
  • 4Xi-Yuan Wang,Yue-Hui Wang,Da-Guang Zhang,et al.Study on the regulation of Cbfal to definitive differentiation of bone marrow mesenchymal stem cells[J].Chinese Journal of Clinical Rehabilitation,2003,7(23):3164-3165.
  • 5Yoshida CA,Furuichi T,Fujita T,et a1.Core-binding factor beta interactswith Runx2 and is required for skeletal development[J].Nat Genet,2002,32(4):633-638.
  • 6Ting Chen,Jin Hou,Ling-Ling Hu,et al.A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia[J].Clin Exp Pathol,2014,7(5):2490-2495.
  • 7王莹,吴华,张晓霞,赵红珊,冯海兰.家族性锁骨颅骨发育不全的基因突变检测[J].中华口腔医学杂志,2005,40(6):459-462. 被引量:20
  • 8Hermann NV,Hove HD,JΦrgensen C,et al.Prenatal 3D ultrasound diagnostics in cleidocranial dysplasia[J].Fetal Diagn Ther,2009,25(1):36-39.
  • 9Tina Keun Nan Park,Karin Vargervik,Snehlata Oberoi.Orthodontic and surgical management of cleidocranial dysplasia[J].Korean J Orthod,2013,43(5):248-260.
  • 10蒋兰,李勇,赖文莉.锁骨颅骨发育不全综合征1例[J].华西口腔医学杂志,2009,27(4):459-460. 被引量:4

二级参考文献21

  • 1赵计林,陈扬熙,吴拓江.牙齿发育异常及颅面异常综合征致病基因研究的新进展[J].中华口腔医学杂志,2005,40(2):172-174. 被引量:3
  • 2王莹,吴华,张晓霞,赵红珊,冯海兰.家族性锁骨颅骨发育不全的基因突变检测[J].中华口腔医学杂志,2005,40(6):459-462. 被引量:20
  • 3Suba Z,Balaton C,Gyulai-Gaál S,et al.Cleidocranial dysplasia:Diagnostic criteria and combined treatment[J].J Craniofac Surg,2005,16(6):1122-1126.
  • 4Mundlos S.Cleidoeranial dysplasia:Clinical and molecular genetics[J].J Med Genet,1999,360):177-182.
  • 5Sakai N,Hasegawa H,Yamazaki Y,et al.A case of a Japanese patient with cleidoeranial dysplasia possessing a mutation of CBFA1 gene[J].J Craniofac Surg,2002,13(1):31-34.
  • 6Cooper SC, Flaitz CM, Johnston DA, et al. A nature history of cleidocranial dysplasia. Am J Med C, enet, 2001,104 : 1-6.
  • 7Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics.J Med Genet, 1999,36:177-182.
  • 8Gelb BD, Cooper E, SheveU M, et al. Genetic mapping of the cleidocranial dysplasia ( CCD ) locus on chromosome band 6p21 to include a microdeletion. Am J Med Genet, 1995,58 : 200-205.
  • 9Mundlos S, Otto F, Mundlos C, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell,1997,89:773-779.
  • 10Ducy P, Zhang R, Geoffrey V, et al. Osf2/Cbfal : a transcriptional activator of osteoblast differentiation. Cell, 1997, 89 : 747-754.

共引文献22

同被引文献5

引证文献1

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部