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颅骨家族性“甜甜圈”样病变。一种良性遗传性发育异常。

Familial "doughnut" lesions of the skull. A benign, hereditary dysplasia.

作者信息

Bartlett J E, Kishore P R

出版信息

Radiology. 1976 May;119(2):385-7. doi: 10.1148/119.2.385.

DOI:10.1148/119.2.385
PMID:1265267
Abstract

Multiple calvarial doughnut lesions present a dramatic roentgenographic picture. The scant literature indicates that they are benign, asymptomatic, and of obscure etiology. Three additional examples of this rare entity have been identified all in the same family and are presented. The implication of a familial relationship with regard to develpmental pathogenesis is discussed. Histology is nonspecific but is felt to be consistent with hyperostosis.

摘要

多发性颅骨环形病变呈现出显著的X线影像学表现。少量文献表明它们是良性的、无症状的,且病因不明。已在同一家庭中发现了另外3例这种罕见病症的病例并予以呈现。本文讨论了家族关系在发育发病机制方面的意义。组织学表现不具有特异性,但被认为与骨质增生一致。

相似文献

1
Familial "doughnut" lesions of the skull. A benign, hereditary dysplasia.颅骨家族性“甜甜圈”样病变。一种良性遗传性发育异常。
Radiology. 1976 May;119(2):385-7. doi: 10.1148/119.2.385.
2
Fibrous dysplasia of the skull: disease activity in relation to age.颅骨纤维发育不良:与年龄相关的疾病活动度
Br J Radiol. 1991 Jul;64(763):576-9. doi: 10.1259/0007-1285-64-763-576.
3
[Fibrous dysplasia of the skull].[颅骨纤维发育异常]
Fortschr Geb Rontgenstr Nuklearmed. 1970 Aug;113(2):207-11.
4
[Limited forms of fibrous osteodysplasia of cranial bones].[颅骨纤维性骨发育异常的局限性形式]
Pol Przegl Radiol Med Nukl. 1975 Sep-Oct;39(5):538-46.
5
[X-ray image of fibrous dysplasia of the skull and age characteristics of its course].[颅骨纤维发育不良的X线影像及其病程的年龄特征]
Vestn Rentgenol Radiol. 1970 Nov-Dec;45(6):3-10.
6
[Doughnut lesions of the cranial vault: an hereditary bone dysplasia].颅骨穹窿部的甜甜圈样病变:一种遗传性骨发育异常
Can Assoc Radiol J. 1988 Sep;39(3):204-8.
7
"Fibrous dysplasia" of the skull with complete unilateral cranial nerve involvement. Case report.
J Neurosurg. 1980 Mar;52(3):404-6. doi: 10.3171/jns.1980.52.3.0404.
8
[Fibrous dysplasia of the skull. Radiologic diagnosis].[颅骨纤维异常增殖症。放射学诊断]
Radiol Med. 1993 Sep;86(3):200-7.
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Fibrodysplasia of the skull: case report and review of the literature.颅骨纤维发育异常:病例报告及文献复习
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[Circumscribed form of fibrous degeneration of the cranial bones].[颅骨纤维变性的局限性形式]
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A novel SGMS2 mutation associated with high bone mass; description of an affected family with recurrent fragility fractures.一种与高骨量相关的新型SGMS2突变;一个患有复发性脆性骨折的患病家族的描述。
Bone Rep. 2025 Mar 5;24:101833. doi: 10.1016/j.bonr.2025.101833. eCollection 2025 Mar.
2
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent Gene Variant.临床和遗传特征的颅 doughnut 病变与骨脆性在三个家庭的复发基因变异。
Int J Mol Sci. 2023 Apr 28;24(9):8021. doi: 10.3390/ijms24098021.
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Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature.
法裔加拿大家庭中伴有骨脆性的颅骨环形病变;病例报告及文献综述
Bone Rep. 2021 Aug 25;15:101121. doi: 10.1016/j.bonr.2021.101121. eCollection 2021 Dec.
4
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.由 SGMS2 中的致病变异体引起的骨质疏松症和骨骼发育不良。
JCI Insight. 2019 Apr 4;4(7). doi: 10.1172/jci.insight.126180.