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致密性骨发育不全症：1例罕见病例的临床影像学报告

Pycnodysostosis: Clinicoradiographic Report of a Rare Case.

作者信息

Dhameliya Mayur D, Dinkar Ajit D, Khorate Manisha, Raut Dessai Sapna S

机构信息

Department of Oral Medicine-Radiology, Goa Dental College and Hospital, Goa, India.

出版信息

Contemp Clin Dent. 2017 Jan-Mar;8(1):134-138. doi: 10.4103/ccd.ccd_1105_16.

DOI:10.4103/ccd.ccd_1105_16
PMID:28566865
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5426146/
Abstract

Pycnodysostosis is an uncommon autosomal recessive sclerosing bone disorder which is characterized by short stature and generalized diffuse osteosclerosis. Patients usually have a large head with separated sutures, open fontanels, aplasia of frontal sinuses, obtuse mandibular gonial angle, and acroosteolysis of the distal phalanges. This case report showed a 25-year-old female with features pathognomonic of pycnodysostosis. The emphasis is mainly on the early diagnosis as it has an important role in the general health of such patients and prevention of complications.

摘要

致密性骨发育不全是一种罕见的常染色体隐性硬化性骨病，其特征为身材矮小和全身性弥漫性骨硬化。患者通常头部较大，缝线分离、囟门开放、额窦发育不全、下颌角钝圆以及远端指骨骨质溶解。本病例报告展示了一名具有致密性骨发育不全特征性表现的25岁女性。重点主要在于早期诊断，因为其对此类患者的总体健康状况及并发症预防具有重要作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13a4/5426146/d80a851dcee0/CCD-8-134-g010.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13a4/5426146/aabaf72808f7/CCD-8-134-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13a4/5426146/53c794768987/CCD-8-134-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13a4/5426146/c2d58035804e/CCD-8-134-g009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/13a4/5426146/d80a851dcee0/CCD-8-134-g010.jpg

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本文引用的文献

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Current research on pycnodysostosis.致密性骨发育不全的当前研究。
Intractable Rare Dis Res. 2014 Aug;3(3):91-3. doi: 10.5582/irdr.2014.01014.
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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
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