Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?

Abstract

Fibroblast growth factor receptor mutations cause some of the main short-limb skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss syndrome. Much work remains to be done in unraveling the pathogenesis of these phenotypes.

DOI: 10.1007/s002470050165

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Cite this paper

@article{Cohen1997ShortlimbSD, title={Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?}, author={M. Michael Cohen}, journal={Pediatric Radiology}, year={1997}, volume={27}, pages={442-446} }