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并非所有胖嘟嘟的脸颊都可爱:一例家族性颌骨多囊病病例

Not All Chubby Cheeks Are Cute: A Case of Cherubism.

作者信息

Pachva Apurvaa, Narella Krishna Teja, Reddy Alekhya A, Kumar Sai Pavan

机构信息

Department of Radiology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.

出版信息

Cureus. 2024 Jul 31;16(7):e65841. doi: 10.7759/cureus.65841. eCollection 2024 Jul.

DOI:10.7759/cureus.65841
PMID:39219902
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11363810/
Abstract

The growth of the jaw occurs painlessly in cherubism, a rare genetic disorder where normal bone is replaced by fibrous tissue and undeveloped bone. Usually running in families, this non-cancerous genetic condition naturally reaches a limit and stops growing. The main characteristic is the aberrant growth of osseous and fibrous tissue in the maxilla and mandible, which is frequently seen in children. Cherubism is inherited autosomal dominantly, though reports have included individuals without a family history. The disorder has specific radiographic and histological features that drastically affect facial appearance. This article provides a thorough case study of a male 16-year-old with cherubism, emphasizing management techniques and clinical and radiological results. Radiological imaging is essential for diagnosis and management because it can identify the distinctive features of cherubism and the treatment implications associated with it.

摘要

颌骨的生长在家族性巨颌症中无痛发生,这是一种罕见的遗传性疾病,正常骨被纤维组织和未发育的骨所取代。这种非癌性遗传疾病通常具有家族遗传性,自然会达到生长极限并停止生长。其主要特征是上颌骨和下颌骨中骨组织和纤维组织的异常生长,常见于儿童。家族性巨颌症为常染色体显性遗传,不过也有报道称存在无家族病史的个体。该疾病具有特定的影像学和组织学特征,会严重影响面部外观。本文提供了一例16岁男性家族性巨颌症的详尽病例研究,重点介绍了治疗技术以及临床和放射学结果。放射影像学对于诊断和治疗至关重要,因为它能够识别家族性巨颌症的独特特征及其相关治疗意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a66d/11363810/3f5407e0b091/cureus-0016-00000065841-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a66d/11363810/ab894bb8521b/cureus-0016-00000065841-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a66d/11363810/a5d58af549d7/cureus-0016-00000065841-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a66d/11363810/8a8c6eb7fed2/cureus-0016-00000065841-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a66d/11363810/3f5407e0b091/cureus-0016-00000065841-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a66d/11363810/ab894bb8521b/cureus-0016-00000065841-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a66d/11363810/a5d58af549d7/cureus-0016-00000065841-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a66d/11363810/8a8c6eb7fed2/cureus-0016-00000065841-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a66d/11363810/3f5407e0b091/cureus-0016-00000065841-i04.jpg

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本文引用的文献

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Combined lesion of central giant cell granuloma and ossifying fibroma: A case report of a rare event in oral cavity.中央巨细胞肉芽肿与骨化性纤维瘤合并病变:一例口腔罕见病例报告
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Clinical and radiological evaluation of cherubism: a sporadic case report and review of the literature.颌骨肥大症的临床与影像学评估:一例散发性病例报告及文献综述
Int J Pediatr Otorhinolaryngol. 2003 Sep;67(9):1005-12. doi: 10.1016/s0165-5876(03)00179-4.
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Cherubism and upper airway obstruction.颌骨肥大症与上呼吸道梗阻。
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Cherubism: a family study to delineate gene action on mandibular growth and development.cherubism:一项关于下颌骨生长发育中基因作用的家系研究。
Birth Defects Orig Artic Ser. 1971 Jun;7(7):222-5.