Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.
Am J Med Genet A. 2014 Jun;164A(6):1384-93. doi: 10.1002/ajmg.a.36417. Epub 2014 Feb 6.
Cornelia de Lange syndrome (CdLS) is the prototype for the cohesinopathy disorders that have mutations in genes associated with the cohesin subunit in all cells. Roberts syndrome is the next most common cohesinopathy. In addition to the developmental implications of cohesin biology, there is much translational and basic research, with progress towards potential treatment for these conditions. Clinically, there are many issues in CdLS faced by the individual, parents and caretakers, professionals, and schools. The following abstracts are presentations from the 5th Cornelia de Lange Syndrome Scientific and Educational Symposium on June 20-21, 2012, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting, Lincolnshire, IL. The research committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts and subsequently disseminates the information to the families. In addition to the basic science and clinical discussions, there were educationally-focused talks related to practical aspects of management at home and in school. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.
康尼氏综合征（CdLS）是黏连蛋白病的原型，这些疾病在所有细胞中都有与黏连蛋白亚单位相关的基因突变。罗伯茨综合征是下一种最常见的黏连蛋白病。除了黏连蛋白生物学的发展意义外，还有许多转化和基础研究，为这些疾病的潜在治疗方法取得了进展。临床上，CdLS 患者个体、家长和照顾者、专业人员和学校都面临着许多问题。以下摘要来自 2012 年 6 月 20 日至 21 日在伊利诺伊州林肯郡举行的第 5 届康尼氏综合征科学与教育研讨会，该会议与康尼氏综合征基金会全国会议同时举行。康尼氏综合征基金会的研究委员会组织会议，审查并接受摘要，然后将信息传播给家属。除了基础科学和临床讨论外，还有一些以教育为重点的演讲，涉及在家中和学校管理的实际方面。马里兰州巴尔的摩的大巴尔的摩医疗中心提供 AMA CME 学分。
