Kline Antonie D, Calof Anne L, Lander Arthur D, Gerton Jennifer L, Krantz Ian D, Dorsett Dale, Deardorff Matthew A, Blagowidow Natalie, Yokomori Kyoko, Shirahige Katsuhiko, Santos Rosaysela, Woodman Julie, Megee Paul C, O'Connor Julia T, Egense Alena, Noon Sarah, Belote Maurice, Goodban Marjorie T, Hansen Blake D, Timmons Jenni Glad, Musio Antonio, Ishman Stacey L, Bryan Yvon, Wu Yaning, Bettini Laura R, Mehta Devanshi, Zakari Musinu, Mills Jason A, Srivastava Siddharth, Haaland Richard E
Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.
Department of Anatomy & Neurobiology, and the Center for Complex Biological Systems, University of California, Irvine, California.
Am J Med Genet A. 2015 Jun;167(6):1179-92. doi: 10.1002/ajmg.a.37056. Epub 2015 Apr 21.
Cornelia de Lange Syndrome (CdLS) is the most common example of disorders of the cohesin complex, or cohesinopathies. There are a myriad of clinical issues facing individuals with CdLS, particularly in the neurodevelopmental system, which also have implications for the parents and caretakers, involved professionals, therapists, and schools. Basic research in developmental and cell biology on cohesin is showing significant progress, with improved understanding of the mechanisms and the possibility of potential therapeutics. The following abstracts are presentations from the 6th Cornelia de Lange Syndrome Scientific and Educational Symposium, which took place on June 25-26, 2014, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting in Costa Mesa, CA. The Research Committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board. In addition to the scientific and clinical discussions, there were educationally focused talks related to practical aspects of behavior and development. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.
科妮莉亚·德朗格综合征（CdLS）是黏连蛋白复合物疾病（即黏连蛋白病）中最常见的例子。患有CdLS的个体面临着无数临床问题，尤其是在神经发育系统方面，这对其父母、照料者、相关专业人员、治疗师和学校也有影响。关于黏连蛋白的发育和细胞生物学基础研究正在取得重大进展，对其机制的理解有所改善，并且有了潜在治疗方法的可能性。以下摘要来自于2014年6月25日至26日与在加利福尼亚州科斯塔梅萨举行的科妮莉亚·德朗格综合征基金会全国会议联合举办的第6届科妮莉亚·德朗格综合征科学与教育研讨会的报告。CdLS基金会的研究委员会组织会议、评审并接受摘要，随后通过临床咨询委员会成员将信息传播给患者家庭。除了科学和临床讨论外，还有与行为和发育实际方面相关的教育主题讲座。马里兰州巴尔的摩的大巴尔的摩医疗中心提供了美国医学协会（AMA）继续医学教育学分。
