密集骨发育不良伴骨干后段缺损

J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
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引用次数: 0

摘要

本章讨论了伴有骨干骨干后位畸形的致密性骨发育不良,并讨论了Blomstrand软骨发育不良、婴儿皮质性骨质增生、Kozlowski-Tsuruta型皮质性骨质增生、产前或围生期出现的三种情况、骨质增生伴高phosphatasia、内皮性骨质增生(Van Buchem型)、camurti - engelmann病、Ghosal骨干血液发育不良、Lenz-Majewski型骨质增生不良、肥大性骨关节病(常染色体隐性遗传)、厚皮骨膜增生症(常染色体显性遗传)、硬化-小脑综合征、颅干骺端发育不良、颅干骺端发育不良、虫骨型、肾盂病、干骺端发育不良(bran - tinschert型)、眼齿发育不良、毛齿-骨发育不良和伴骨恶性肿瘤的干髓管狭窄。每个讨论包括主要的放射学特征,主要的临床发现,遗传学,对疾病过程的讨论,适当的调查和潜在的治疗,主要的鉴别诊断,和参考书目。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects
This chapter discusses dense bone dysplasias with meta-diaphyseal modeling defects and includes discussion on Blomstrand chondrodysplasia, infantile cortical hyperostosis, dysplastic cortical hyperostosis type Kozlowski-Tsuruta, three conditions presenting in the pre- or perinatal period, osteoectasia with hyperphosphatasia, endosteal hyperostosis (Van Buchem type), Camurati-Engelmann disease, Ghosal hematodiaphyseal dysplasia, Lenz-Majewski hyperostotic dysplasia, hypertrophic osteoarthropathy (autosomal recessive), pachydermoperiostosis (autosomal dominant), sclerosteo-cerebellar syndrome, craniodiaphyseal dysplasia, craniometaphyseal dysplasia, craniometadiaphyseal dysplasia wormian bone type, Pyle disease, metaphyseal dysplasia (Braun-Tinschert type), oculodentoosseo dysplasia, tricho-dento-osseous dysplasia, and diaphyseal medullary stenosis with bone malignancy. Each discussion includes major radiographic features, major clinical findings, genetics, discussions on the course of the disorder, appropriate investigations and potential treatment, major differential diagnoses, and a bibliography.
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