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.
Cohen
M Michael
MM
Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada. michael.cohen@dal.ca
D003393:Cranial Sutures / Q000033:anatomy & histology / Q000473:pathology; D003398:Craniosynostoses / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D013577:Syndrome; D020691:rab GTP-Binding Proteins / Q000235:genetics
D017468:Receptors, Fibroblast Growth Factor; C486614:RAB23 protein, human; D020691:rab GTP-Binding Proteins