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[Sclerosing hyperostotic bone disorders].

作者信息

Kildal Daniela, Braunschweig Rainer, Schaal Matthias, Mack Martin

机构信息

Spitalzentrum Oberwallis, Pflanzettastr. 8, 3930, Visp, Schweiz.

Max Grundig Klinik GmbH, Schwarzwaldhochstraße 1, 77815, Bühl, Deutschland.

出版信息

Radiologe. 2021 Dec;61(12):1096-1106. doi: 10.1007/s00117-021-00930-3. Epub 2021 Nov 4.

DOI:10.1007/s00117-021-00930-3
PMID:34735583
Abstract

CLINICAL/METHODICAL ISSUE: Diagnosis of sclerosing and hyperostotic bone disorders (SHS) is challenging. The correct and early identification of SHS can have therapeutic, prognostic and, in case of genetic SHS with regard to the risk of inheritance, advisory consequences.

STANDARD RADIOLOGICAL METHODS

For diagnosis, radiographic examinations and supplementary computed tomography (CT) and magnetic resonance imaging (MRI) are used. These are of indicative nature. Definitive diagnosis is usually made by genetic differentiation.

METHODICAL INNOVATIONS

In combination with the age of the affected person and the location of the osseous changes the characteristic image criteria are important. These are summarized in groups in this overview.

PRACTICAL RECOMMENDATIONS

Projection radiography in two planes is the imaging modality of choice. CT and MR can detect additional differential diagnostic criteria and should be indicated when needed.

摘要

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Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism.伦茨-马耶夫斯基综合征:单个突变如何导致脂质代谢的复杂变化。
J Rare Dis Res Treat. 2016;2(1):47-51. doi: 10.29245/2572-9411/2017/1.1080. Epub 2016 Dec 29.
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Osteopetrosis: genetics, treatment and new insights into osteoclast function.骨硬化症:遗传学、治疗方法及破骨细胞功能的新见解。
Nat Rev Endocrinol. 2013 Sep;9(9):522-36. doi: 10.1038/nrendo.2013.137. Epub 2013 Jul 23.