[Genetics of craniofacial development].
Congenital craniofacial malformations vary widely in both expression and gravity. To understand congenital craniofacial malformations, knowledge of embryonic development is of essential importance. Craniosynostosis has its origin in the failure of suture development between 2 bone centres or in early closure of the suture by bone centre tissue fusion. Hereditary craniosynostosis phenotypes predominantly arise by autosomal dominant inheritance. So far, the majority of mutations have been found in fibroblast growth-factor receptor genes (FGFR-genes). Different phenotypes are not primarily created by disparities of the receptors, but particularly by tissue-specific expressions.
van Adrichem
L N A
LN
Afdeling Plastische en Reconstructieve Chirurgie, Kaakchirurgie en Bijzondere Tandheelkunde van het Craniofaciaal Centrum Nederland, Erasmus Universitair Medisch Centrum Rotterdam, Sophia Kinderziekenhuis. l.vanadrichem@erasmusmc.nl
Hoogeboom
A J M
AJ
Wolvius
E B
EB
D003393:Cranial Sutures / Q000196:embryology / Q000254:growth & development*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D005346:Fibroblast Growth Factors / Q000235:genetics / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D010641:Phenotype; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D012886:Skull / Q000196:embryology / Q000254:growth & development*
D017468:Receptors, Fibroblast Growth Factor; D005346:Fibroblast Growth Factors