Achondroplasia and Related FGFR3 Conditions

Jürgen W. Spranger,Paula W. Brill,Christine Hall,Gen Nishimura,Andrea Superti-Furga,Sheila Unger

Bone Dysplasias（2018）

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摘要

This chapter discusses achondroplasia and related FGFR3 conditions and explores thanatophoric dysplasia (Types 1 and 2), achondroplasia, hypochondroplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

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