Journal article
Facial Dysostoses: Etiology, Pathogenesis and Management
American journal of medical genetics. Part C, Seminars in medical genetics, Vol.163(4), pp.283-294
11/01/2013
DOI: 10.1002/ajmg.c.31375
PMCID: PMC3870197
PMID: 24123981
Abstract
Approximately 1% of all live births exhibit a minor or major congenital anomaly. Of these approximately one-third display craniofacial abnormalities which are a significant cause of infant mortality and dramatically affect national health care budgets. To date, more than 700 distinct craniofacial syndromes have been described and in this review, we discuss the etiology, pathogenesis and management of facial dysostoses with a particular emphasis on Treacher Collins, Nager and Miller syndromes. As we continue to develop and improve medical and surgical care for the management of individual conditions, it is essential at the same time to better characterize their etiology and pathogenesis. Here we describe recent advances in our understanding of the development of facial dysostosis with a view towards early in utero identification and intervention which could minimize the manifestation of anomalies prior to birth. The ultimate management for any craniofacial anomaly however, would be prevention and we discuss this possibility in relation to facial dysostosis. (c) 2013 Wiley Periodicals, Inc.
Details
- Title: Subtitle
- Facial Dysostoses: Etiology, Pathogenesis and Management
- Creators
- Paul A. Trainor - University of Kansas Medical CenterBrian T. Andrews - University of Kansas
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part C, Seminars in medical genetics, Vol.163(4), pp.283-294
- DOI
- 10.1002/ajmg.c.31375
- PMID
- 24123981
- PMCID
- PMC3870197
- NLM abbreviation
- Am J Med Genet C Semin Med Genet
- ISSN
- 1552-4868
- eISSN
- 1552-4876
- Publisher
- Wiley
- Number of pages
- 12
- Grant note
- Stowers Institute for Medical Research R01DE016082 / NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Dental & Craniofacial Research (NIDCR) RO1 DE 016082 / National Institute of Dental and Craniofacial Research; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Dental & Craniofacial Research (NIDCR)
- Language
- English
- Date published
- 11/01/2013
- Academic Unit
- Craniofacial Anomalies Research Center; Neurosurgery; Otolaryngology
- Record Identifier
- 9984366288902771
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