title: Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.
abstract: Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells, which generate most of the bone and cartilage of the head and face. In this review, we discuss advances in our understanding of the pathogenesis of a specific array of craniofacial anomalies, termed facial dysostoses, which can be subdivided into mandibulofacial dysostosis, which present with craniofacial defects only, and acrofacial dysostosis, which encompasses both craniofacial and limb anomalies. In particular, we focus on Treacher Collins syndrome, Acrofacial Dysostosis-Cincinnati Type as well as Nager and Miller syndromes, and animal models that provide new insights into the molecular and cellular basis of these congenital syndromes. We emphasize the etiologic and pathogenetic similarities between these birth defects, specifically their unique deficiencies in global processes including ribosome biogenesis, DNA damage repair, and pre-mRNA splicing, all of which affect neural crest cell development and result in similar tissue-specific defects. WIREs Dev Biol 2017, 6:e263. doi: 10.1002/wdev.263 For further resources related to this article, please visit the WIREs website.
authors.affiliation: Stowers Institute for Medical Research, Kansas City, MO, USA.
authors.forename: Karla
authors.initials: K
authors.lastname: Terrazas
authors.affiliation: Division of Dentistry, Faculty of Biology, Medicine & Health, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Manchester, UK.
authors.forename: Jill
authors.initials: J
authors.lastname: Dixon
authors.affiliation: Stowers Institute for Medical Research, Kansas City, MO, USA.|Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS, USA.
authors.forename: Paul A
authors.initials: PA
authors.lastname: Trainor
authors.affiliation: Division of Dentistry, Faculty of Biology, Medicine & Health, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Manchester, UK.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Dixon
mesh_terms: D000818:Animals; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000473:pathology*; D009432:Neural Crest / Q000473:pathology*; D013577:Syndrome