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成骨不全症中的颅颈异常:遗传与分子关联

Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation.

作者信息

Sillence D O

机构信息

Department of Genetics, Children's Hospital, Camperdown, NSW, Australia.

出版信息

Pediatr Radiol. 1994;24(6):427-30. doi: 10.1007/BF02011910.

DOI:10.1007/BF02011910
PMID:7700720
Abstract

Basilar impression (BI) assessed by either plain lateral skull radiograph or computerized tomography (CT) sagittal reconstruction of the craniocervical junction is a common finding occurring in 25% of subjects with osteogenesis imperfecta (OI). It appears to occur with highest frequency in a group of subjects with OI type IV B, i.e. patients with mild/moderate liability to fractures, normal sclerae but dentinogenesis imperfecta. Neurologic signs indicating compression of posterior fossa structures occur predominantly in subjects with BI and OI type IV. Screening is recommended for all patients with OI but particularly OI type IV B.

摘要

通过颅骨侧位平片或颅颈交界区计算机断层扫描(CT)矢状面重建评估的基底凹陷(BI)是成骨不全(OI)患者中常见的表现,在25%的OI患者中出现。它似乎在一组IV B型OI患者中出现的频率最高,即骨折风险为轻度/中度、巩膜正常但牙本质生成不全的患者。提示后颅窝结构受压的神经系统体征主要出现在患有基底凹陷和IV型OI的患者中。建议对所有OI患者进行筛查,尤其是IV B型OI患者。

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本文引用的文献

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Basilar impression of the skull.颅骨基底凹陷症
中重度成骨不全症的颅颈异常-基因型和表型决定因素。
Orthod Craniofac Res. 2024 Apr;27(2):237-243. doi: 10.1111/ocr.12707. Epub 2023 Aug 29.
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Influence of the Severity of Osteogenesis Imperfecta on Cranial Measurements.成骨不全严重程度对颅骨测量的影响。
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GMS Interdiscip Plast Reconstr Surg DGPW. 2019 Mar 29;8:Doc06. doi: 10.3205/iprs000132. eCollection 2019.
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Complex spine deformities in young patients with severe osteogenesis imperfecta: current concepts review.重度成骨不全症年轻患者的复杂脊柱畸形:当前概念综述
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CLINICAL SYNDROMES ASSOCIATED WITH BASILAR IMPRESSION.与颅底凹陷症相关的临床综合征
Arch Neurol. 1964 May;10:475-84. doi: 10.1001/archneur.1964.00460170045008.
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Brain. 1955;78(2):229-47. doi: 10.1093/brain/78.2.229.
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Modified head-neck support for basilar invagination with brain-stem compression.改良式头颈部支撑用于治疗伴有脑干受压的基底凹陷症。
Can Med Assoc J. 1982 Apr 15;126(8):947-8.
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