Craniosynostosis: novel insights into pathogenesis and treatment.
The identification in craniosynostosis syndromes of mutations in genes belonging to the fibroblast growth factor signalling pathway and the transcriptional regulator MSX2 provides important clues to the pathogenesis of these disorders. Although surgery continues to be the mainstay of treatment, new animal models and improved uncerstanding of cranial suture biology and pathology may lead to complementary therapies.
Wilkie
A O
AO
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
Wall
S A
SA
D000168:Acrocephalosyndactylia / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D006801:Humans; D009154:Mutation; D017475:Receptors, Nerve Growth Factor / Q000378:metabolism*
D017475:Receptors, Nerve Growth Factor