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Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes.

Perspectives on craniosynostosis are discussed under the following headings: sutural biology (anatomic and genetic categories of synostosis; sutures, suture systems, and types of craniosynostosis; well-known syndromes (Muenke syndrome and Pfeiffer syndrome); and unusual syndromes (thanatophoric dysplasia, Beare-Stevenson cutis gyrata syndrome, Crouzonodermoskeletal syndrome, Carpenter syndrome, Elejalde syndrome, hypomandibular faciocranial syndrome, and craniorhiny). Five of these syndromes are caused by fibroblast growth factor receptor (FGFR) mutations; one is caused by ras-like in rat brain 23 (RAB23) mutations; and three have Mendelian patterns of inheritance, but the molecular basis remains unknown to date.[1]

References

  1. Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes. Cohen, M.M. J. Craniofac. Surg (2009) [Pubmed]
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