O'Hara Justine, Ruggiero Federica, Wilson Louise, James Greg, Glass Graeme, Jeelani Owase, Ong Juling, Bowman Richard, Wyatt Michelle, Evans Robert, Samuels Martin, Hayward Richard, Dunaway David J
Great Ormond Street Craniofacial Unit, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital for Children NHS Trust, London, UK.
Mol Syndromol. 2019 Feb;10(1-2):83-97. doi: 10.1159/000495739. Epub 2019 Jan 16.
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.
患有综合征性颅缝早闭的患者，其颅缝过早闭合以及相关面部和颅外特征具有分子层面确定的遗传病因。其临床复杂性需要一个庞大的多学科团队进行全面管理。本综述旨在将基因型和表型知识与在大奥蒙德街儿童医院国民保健服务基金会信托基金颅面科最常就诊的颅面综合征的临床表现及管理相结合。
