Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.
Am J Med Genet A. 2010 Nov;152A(11):2714-26. doi: 10.1002/ajmg.a.33709.
Marshall-Smith syndrome (MSS) is a distinctive entity of unknown etiology with fewer than 50 patients described in the medical literature to date. Through an International collaboration and use of an online wiki to facilitate data collection and sharing, we further delineate the phenotype and natural history of this syndrome. We present 15 new patients, the oldest being 30 years, provide an update on four previously published cases, and compare all patients with other patients reported in literature. Main clinical features are moderate to severe developmental delay with absent or limited speech, unusual behavior, dysharmonic bone maturation, respiratory compromise secondary to upper airway obstruction, short stature, and kyphoscoliosis. Facial features are characteristic with high forehead, underdeveloped midface, proptosis, anteverted nares, and everted lips. Minor abnormalities of brain morphology such as hypoplasia of the corpus callosum are common. Mortality from respiratory complications is high, but airway support increasingly allows survival into adulthood. Array-CGH was performed on 12 of the cohort and no copy number variants of clear clinical relevance were identified. The present study is the first reported use of an online wiki to aid delineation of a genetic syndrome, and illustrates its value in collecting detailed data in rare conditions.
马歇尔-史密斯综合征（MSS）是一种病因不明的独特实体，迄今为止，医学文献中仅描述了不到 50 例患者。通过国际合作和使用在线维基来促进数据收集和共享，我们进一步描述了该综合征的表型和自然病史。我们介绍了 15 名新患者，其中最年长的为 30 岁，提供了对之前发表的 4 例病例的更新，并将所有患者与文献中报告的其他患者进行了比较。主要临床特征为中重度发育迟缓，伴有言语缺失或受限、异常行为、骨成熟不协调、上呼吸道阻塞导致呼吸功能障碍、身材矮小和脊柱侧凸。面部特征具有特征性，表现为高额头、中面部发育不良、眼球突出、鼻孔前翻和嘴唇外翻。脑形态的微小异常如胼胝体发育不全较为常见。死于呼吸并发症的风险较高，但气道支持越来越能使患者存活到成年。对该队列中的 12 名患者进行了 array-CGH 检测，未发现明确具有临床意义的拷贝数变异。本研究首次报告了使用在线维基来辅助遗传综合征的描绘，并说明了其在罕见疾病中收集详细数据的价值。
