| Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. | |
| | |
MedLine Citation:
|
PMID: 20734335 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Of all the babies born with birth defects, approximately one-third display anomalies of the head and face [Gorlin et al., 1990] including cleft lip, cleft palate, small or absent facial and skull bones and improperly formed nose, eyes, ears, and teeth. Craniofacial disorders are a primary cause of infant mortality and have serious lifetime functional, esthetic, and social consequences that are devastating to both children and parents alike. Comprehensive surgery, dental care, psychological counseling, and rehabilitation can help ameliorate-specific problems but at great cost over many years which dramatically affects national health care budgets. For example, the Center for Disease Control and Prevention estimates that the lifetime cost of treating the children born each year with cleft lip and/or cleft palate alone to be US$697 million. Treating craniofacial malformations, of which in excess of 700 distinct syndromes have been described, through comprehensive, well-coordinated and integrated strategies can provide satisfactory management of individual conditions, however, the results are often variable and rarely fully corrective. Therefore, better techniques for tissue repair and regeneration need to be developed and therapeutic avenues of prevention need to be explored in order to eliminate the devastating consequences of head and facial birth defects. To do this requires a thorough understanding of the normal events that control craniofacial development during embryogenesis. This review therefore focuses on recent advances in our understanding of the basic etiology and pathogenesis of a rare craniofacial disorder known as Treacher Collins syndrome and emerging prospects for prevention that may have broad application to congenital craniofacial birth defects. |
| | |
Authors:
|
Paul A Trainor |
Related Documents
:
|
16566035 - Prenatal phenotypic overlap of costello syndrome and severe noonan syndrome by tri-dime... 8357025 - Steinfeld syndrome: report of a second family and further delineation of a rare autosom... 2176925 - Early prenatal diagnosis of meckel syndrome--a case report. 9475095 - Atelosteogenesis type 2. 8946275 - Immunoglobulin subclass levels in chronic fatigue syndrome. 9746685 - Understanding, recognizing, and treating rett syndrome. |
Publication Detail:
|
Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review Date: 2010-08-23 |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Dec |
Date Detail:
|
Created Date: 2010-11-25 Completed Date: 2011-03-15 Revised Date: 2011-05-16 |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
|
Languages: eng Pagination: 2984-94 Citation Subset: IM |
Affiliation:
|
Stowers Institute for Medical Research, Kansas City, Missouri 64110, USA. pat@stowers-institute.org |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Child Forecasting Humans Infant Mandibulofacial Dysostosis / etiology*, pathology, prevention & control* Neural Crest / embryology* Neural Tube Defects / complications, pathology |
| Grant Support | |
ID/Acronym/Agency:
|
R0 DE016082-01/DE/NIDCR NIH HHS; R01 DE016082-01/DE/NIDCR NIH HHS; R01 DE016082-02/DE/NIDCR NIH HHS; R01 DE016082-03/DE/NIDCR NIH HHS; R01 DE016082-04/DE/NIDCR NIH HHS; R01 DE016082-05/DE/NIDCR NIH HHS; R01 DE016082-06/DE/NIDCR NIH HHS; R01 DE016082-07/DE/NIDCR NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Chemopreventive activity of Azadirachta indica on two-stage skin carcinogenesis in murine model.
Next Document: De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.