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致密性成骨不全症的影像学观察。病例报告。

Radiographic observations of pyknodysostosis. Report of a case.

作者信息

Kawahara K, Nishikiori M, Imai K, Kishi K, Fujiki Y

出版信息

Oral Surg Oral Med Oral Pathol. 1977 Sep;44(3):476-82. doi: 10.1016/0030-4220(77)90419-4.

DOI:10.1016/0030-4220(77)90419-4
PMID:269344
Abstract

A case of pyknodysostosis in a 32-year-old woman has been reported. The patient presented typical skeletal changes, separated cranial sutures, open fontanelles, partial aplasia of the terminal phalanges of the fingers and toes, and brachyphalanges. The oral findings included lesions resembling periapical cementoma, hypoplasia of the maxilla and mandible, crowding of teeth, and a median raphe.

摘要

报道了一例32岁女性的致密性骨发育不全病例。患者呈现出典型的骨骼改变,颅骨缝分离、囟门未闭、手指和脚趾末端指骨部分发育不全以及短指(趾)。口腔表现包括类似根尖周牙骨质瘤的病变、上颌骨和下颌骨发育不全、牙齿拥挤以及正中缝。

相似文献

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Radiographic observations of pyknodysostosis. Report of a case.致密性成骨不全症的影像学观察。病例报告。
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Clinical and radiographic characteristics of pycnodysostosis: A systematic review.致密性成骨不全症的临床和影像学特征:一项系统综述。
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Clinical and radiographic maxillofacial features of pycnodysostosis.致密性骨发育不全的临床及影像学颌面部特征
Int J Clin Exp Med. 2014 Mar 15;7(3):492-6. eCollection 2014.
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Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.患有致密性骨发育不全的日本女性同胞中组织蛋白酶K基因的新型复合杂合突变
Mol Syndromol. 2012 Apr;2(6):254-258. doi: 10.1159/000336581. Epub 2012 Mar 6.