J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
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引用次数: 0
摘要
本章讨论短肋(±多指畸形)发育不良及相关疾病,包括对窒息性胸椎发育不良、Ellis van Creveld综合征、短肋±多指畸形综合征(Saldino-Noonan型和Verma-Naumoff型)、短肋(±多指畸形)综合征(Majewski型)、短肋±多指畸形综合征(bemer - langer型)、颅外胚层发育不良、Mainzer-Saldino综合征和轴型椎体干骺端发育不良的讨论。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。
This chapter discusses short-rib (± polydactyly) dysplasias and related disorders and includes discussion on asphyxiating thoracic dysplasia, Ellis van Creveld syndrome, short rib ±polydactyly syndrome (Saldino-Noonan and Verma-Naumoff types), short rib (±polydactyly) syndrome (Majewski type), short rib ±polydactyly syndrome (Beemer-Langer type), cranioectodermal dysplasia, Mainzer-Saldino syndrome, and axial spondylometaphyseal dysplasia. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.