Document Detail

Genetics of craniosynostosis: review of the literature.
MedLine Citation:
PMID:  20108486     Owner:  NLM     Status:  MEDLINE    
Craniosynostosis represents a defection of the skull caused by early fusion of one or more cranial sutures. The shape alteration of the cranial vault varies, depending on the fused sutures, so that compensatory growth occurs in dimensions not restricted by sutures. Craniosynostosis can be divided into two main groups: syndromic and nonsyndromic. Nonsyndromic craniosynostosis is typically an isolated finding that is classified according to the suture(s) involved. Syndromic craniosynostosis is associated with various dysmorphisms involving the face, skeleton, nervous system and is usually accompanied by developmental delay. In the last 15 years, research on craniosynostosis has progressed from the description of gross abnormalities to the understanding of the genetic basis of certain cranial deformities. Mutations in the genes encoding fibroblast growth factor receptors 1, 2 and 3 (FGFR-1, FGFR-2, FGFR-3), TWIST and MSX2 (muscle segment homebox 2) have been identified in certain syndromic craniosynostosis. The molecular basis of many types of syndromic craniosynostosis is known and diagnostic testing strategies will often lead to a specific diagnosis. Although the clarification of a genetic lesion does not have a direct impact on the management of the patient in many cases, there is a significant benefit in providing accurate prenatal diagnosis. This review summarizes the available knowledge on cranisynostosis and presents a graduated strategy for the genetic diagnosis of these craniofacial defects.
Alexandru Vlad Ciurea; Corneliu Toader
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of medicine and life     Volume:  2     ISSN:  1844-122X     ISO Abbreviation:  J Med Life     Publication Date:    2009 Jan-Mar
Date Detail:
Created Date:  2010-01-29     Completed Date:  2010-03-05     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101477617     Medline TA:  J Med Life     Country:  Romania    
Other Details:
Languages:  eng     Pagination:  5-17     Citation Subset:  IM    
First Neurosurgical Department, Bagdasar-Arseni Clinical Emergency Hospital, Bucharest.
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MeSH Terms
Craniosynostoses / classification,  diagnosis,  genetics*
Genetic Counseling
Homeodomain Proteins / genetics
Nuclear Proteins / genetics
Receptors, Fibroblast Growth Factor / genetics
Twist Transcription Factor / genetics
Reg. No./Substance:
0/Homeodomain Proteins; 0/MSX2 protein; 0/Nuclear Proteins; 0/Receptors, Fibroblast Growth Factor; 0/TWIST1 protein, human; 0/Twist Transcription Factor

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