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锁骨颅骨发育不全的临床和影像学特征回顾并附两例报告及牙科治疗方案

A review of clinical and radiological features of cleidocranial dysplasia with a report of two cases and a dental treatment protocol.

作者信息

Paul S Arun, Simon S Sibu, Karthik A Kaneesh, Chacko Rabin K, Savitha S

机构信息

Department of Dental and Oral Surgery, Unit 1, Christian Medical College, Vellore, Tamil Nadu, India.

Department of Oral and Maxillofacial Surgery, J K K Nattraja Dental College, Kumarapalayam, Tamil Nadu, India.

出版信息

J Pharm Bioallied Sci. 2015 Aug;7(Suppl 2):S428-32. doi: 10.4103/0975-7406.163490.

DOI:10.4103/0975-7406.163490
PMID:26538892
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4606634/
Abstract

Cleidocranial dysplasia (CCD) is a rare autosomal dominant condition with generalized dysplasia of bone characterized by delayed closure of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal abnormalities. We report two cases presenting with classical features of CCD because of its rarity.

摘要

锁骨颅骨发育不全（CCD）是一种罕见的常染色体显性疾病，其特征为全身性骨骼发育异常，表现为颅缝闭合延迟、锁骨发育不全或缺失、身材矮小、牙齿异常以及多种其他骨骼异常。由于其罕见性，我们报告了两例具有CCD典型特征的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb43/4606634/a49b5dea4ff2/JPBS-7-428-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb43/4606634/cc17be3363b0/JPBS-7-428-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb43/4606634/a49b5dea4ff2/JPBS-7-428-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb43/4606634/cc17be3363b0/JPBS-7-428-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb43/4606634/a49b5dea4ff2/JPBS-7-428-g002.jpg

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本文引用的文献

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Oral Surg Oral Med Oral Pathol Oral Radiol. 2013 Jan;115(1):46-55. doi: 10.1016/j.oooo.2012.07.435. Epub 2012 Oct 24.
2
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB.大囟门是RUNX2及其共激活因子CBFB单倍剂量不足的共同特征。
Congenit Anom (Kyoto). 2004 Dec;44(4):225-9. doi: 10.1111/j.1741-4520.2004.00043.x.
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Cleidocranial dysplasia: clinical and molecular genetics.
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Imaging of Thoracic Wall Abnormalities.胸部壁异常的影像学表现。
Korean J Radiol. 2019 Oct;20(10):1441-1453. doi: 10.3348/kjr.2019.0181.
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Clinical and radiological findings in a severe case of cleidocranial dysplasia.一例严重锁骨颅骨发育不全症的临床及影像学表现
BMJ Case Rep. 2018 Nov 12;2018:bcr-2018-226671. doi: 10.1136/bcr-2018-226671.
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J Med Genet. 1999 Mar;36(3):177-82.
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