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

Abstract

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.

• Authors: M Michael Cohen Jr
• Journal: The Journal of craniofacial surgery (J Craniofac Surg) Vol. 20 Suppl 1 Pg. 646-51 (Mar 2009) ISSN: 1536-3732 [Electronic] United States
• PMID: 19293680 (Publication Type: Journal Article)

Chemical References

• Receptors, Fibroblast Growth Factor
• RAB23 protein, human
• rab GTP-Binding Proteins

Topics

• Cranial Sutures (anatomy & histology, pathology)
• Craniosynostoses (classification, genetics, pathology)
• Genes, Dominant
• Genes, Recessive
• Humans
• Mutation
• Polymorphism, Single Nucleotide
• Receptors, Fibroblast Growth Factor (genetics)
• Syndrome
• rab GTP-Binding Proteins (genetics)