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Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects 

Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects
Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects

Jürgen W. Spranger

, Paula W. Brill

, Christine Hall

, Gen Nishimura

, Andrea Superti-Furga

, and Sheila Unger

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date: 22 September 2020

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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