PubMed · 11519362
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S E Vergara-Acevedo, J L Criales-Cortés. [Plagiocephaly].. https://pubmed.ncbi.nlm.nih.gov/11519362/
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Craniosynostosis, caused by premature fusion of the sutures, may be syndromic or non-syndromic. Radiology has an important role to play in the assessment, management and follow-up of these patients. Initial investigations may often be undertaken within general radiology departments. An understanding of the terminology and recognition of the predictable patterns of presentation are essential to enable appropriate referral to a craniofacial unit where further investigation and management are undertaken. We present the radiological features of several craniosynostoses with an emphasis on the role of plain radiography. We demonstrate the complementary role of computed tomography in their evaluation within the setting of a specialist centre.
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We report a baby with craniosynostosis and a sacral appendage who has been found to have a Ser351Cys mutation in the fibroblast growth factor receptor 2 gene (FGFR2). This is the first report of sacral appendage associated with a confirmed mutation in one of the FGFR genes, and adds to the spectrum of abnormalities which can be seen in patients with FGFR mutations.