Punctate Calcification Group

J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
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Abstract

This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
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点状钙化群
本章讨论点状钙化组和相关疾病,包括讨论格林伯格发育不良、点状软骨发育不良康拉德- h内曼型、CHILD(先天性半发育不良伴鱼状红皮病和肢体缺陷)综合征、点状软骨发育不良(根状型)、点状软骨发育不良(短端指骨型)、点状软骨发育不良(常染色体显性型)、点状软骨发育不良(胫-掌型)和Keutel综合征。每个讨论包括主要的放射学特征,主要的临床发现,遗传学,主要的鉴别诊断和参考书目。
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Pseudoachondroplasia and Dominant Epiphyseal Dysplasia Punctate Calcification Group Spondylocostal Dysostoses Rhizo-Mesomelic Dysplasias Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects
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