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颅骨锁骨发育不全综合征:1例家系报告及文献复习 被引量:1

A case of cleidocranial dysplasia syndrome family and review of the literature
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摘要 颅骨锁骨发育不全综合征是一种先天性全身骨骼发育不全性疾病,临床罕见,以锁骨发育不良、囟门闭合延迟、方颅、乳牙脱落延迟、恒牙迟萌或阻生、多生牙以及颌骨形态异常为主要临床特征。本文报告1例颅骨锁骨发育不全综合征家系,并结合相关文献,对该病的发病率、发病机制、临床表现、诊断及治疗进行讨论。 Cleidocranial dysplasia (CCD) is a well-documented rare congenital disorder of the bone characterized by clavicular hypoplasia or aplasia,delayed closure of cranial fontanels,brachycephalic skull,delayed exfoliation of primary dentition,delayed eruption of permanent teeth,and multiple supernumerary and morphologic abnormalities of the maxilla and mandible.In this paper,a case of cleidocranial dysplasia syndrome family was reported,and its incidence,pathogenesis,clinical features and methods of treatment were discussed by reviewing relevant literatures.
出处 《中国口腔颌面外科杂志》 CAS 2010年第3期282-286,共5页 China Journal of Oral and Maxillofacial Surgery
关键词 颅骨锁骨发育不全综合征 家系 牙列畸形 Cleidocranial dysplasia Family Dental anomalies
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参考文献18

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二级参考文献51

  • 1彭友俭,程祥荣.锁骨颅骨发育不全综合征(CCD)的牙面畸形特征分析[J].口腔医学研究,2005,21(5):562-563. 被引量:4
  • 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
  • 3金鑫,邵玶,赵佩珠.颅骨锁骨发育不全综合征的特征分析[J].哈尔滨医科大学学报,2006,40(3):265-266. 被引量:2
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