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Literature DB >> 30976282

Syndromic Craniosynostosis: Complexities of Clinical Care.

Justine O'Hara¹, Federica Ruggiero¹, Louise Wilson¹, Greg James¹, Graeme Glass¹, Owase Jeelani¹, Juling Ong¹, Richard Bowman¹, Michelle Wyatt¹, Robert Evans¹, Martin Samuels¹, Richard Hayward¹, David J Dunaway¹.

Abstract

Patients with syndromic craniosynostosis have a molecularly identified genetic cause for the premature closure of their cranial sutures and associated facial and extra-cranial features. Their clinical complexity demands comprehensive management by an extensive multidisciplinary team. This review aims to marry genotypic and phenotypic knowledge with clinical presentation and management of the craniofacial syndromes presenting most frequently to the craniofacial unit at Great Ormond Street Hospital for Children NHS Foundation Trust.

Entities: Chemical

Keywords: Craniofrontonasal dysplasia; Fronto-orbital remodelling; Intracranial pressure; Syndromic craniosynostosis

Year: 2019 PMID： 30976282 PMCID： PMC6422147 DOI： 10.1159/000495739

Source DB: PubMed Journal: Mol Syndromol ISSN： 1661-8769

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6 in total

1. Mechanical loading of cranial joints minimizes the craniofacial phenotype in Crouzon syndrome.

Authors: Mehran Moazen; Mahbubeh Hejazi; Dawn Savery; Dominic Jones; Arsalan Marghoub; Ali Alazmani; Erwin Pauws
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Journal: Childs Nerv Syst Date: 2021-09-23 Impact factor: 1.475