1. Williams syndrome phenotype Will

1. Williams syndrome phenotype
Williams syndrome (WS) is a rare neurodevelopmental condition that has been identified as
having unique medical, cognitive and behavioural features associated with deletion of
multiple adjacent genes at chromosome 7. As discussed in thesubsequent sections deletions
of the elastin gene (ELN) plays a major role in the development of the cardiovascular and
dysmorphic features. Other genes in the microdeletion region may contribute to other
characteristics or traits, especially development of the central nervous system (CNS) and
peripheral nerves.
1.2 History
In 1961 Williams and co-workers published descriptions of four children with supravalvular
aortic stenosis, similar facial features, and physical and mental characteristics (Williams et al.,
1961). Beuren et al. (1962) reported three cases, two males and one female, with
supravalvular aortic stenosis, similar facies with associated dental anomalies and mental
retardation. Three research groups in the 1950’s all described cases of severe idiopathic aortic
stenosis and hypercalcemia (Franconi et al., 1952; Lightwood 1953; Creery, 1953). The
associations were not recognised as constituting a dysmorphic syndrome. In retrospect their
cases had the typical phenotype of WS (Goch and Pancau, 1994b, Greenberg 1989). Black
and Bonham Carter (1963) associated aortic stenosis with severe infantile hypercalcemia,
providing a link between the newly recognised condition of WS and infantile hypercalcemia.
Beuren et al.(1964) published a series of 11 patients outlining the phenotypic characteristics
of the condition. The similarities were clear, particularly the facial characteristics, dental and
ocular anomalies, and the personality traits. Garcia and Friedman (1964) linked the
characteristics of infantile hypercalcemia and supravalvular aortic stenosis with the so-called
“elfin facies” and personality. This formalised the features of the Williams syndrome or
Williams-Beuren syndrome
With time, patients were not only recognised in pediatric and/or cardiac units, but also among
adults with delayed mental development because of their specific behavioural phenotype. If
clinicians were familiar with the phenotype it was possible to make a diagnosis with a
reasonable level of certainty. However, due to the rarity of the condition the time to diagnosis
was often prolonged (Bjornstad, 1994). The discovery of a deletion of the elastin gene on the
long arm of chromosome 7 has simplified diagnosis (Curran et al., 1993; Ewart et al., 1993;

Results (English) 2:

1。威廉姆斯综合征表型
威廉姆斯综合征（WS）是一种罕见的神经发育的条件，已被确定为
具有独特的医疗，认知和行为在7号染色体的
多个相邻基因缺失相关特征。在随后的部分缺失的讨论
弹性蛋白基因（ELN）在心血管和
发展起着重要的作用畸形特征。在缺失区域的其他基因可能有助于其他
特性或特征，特别是中枢神经系统（CNS）的发展和
外周神经。1.2
历史
1961威廉姆斯和他的同事发表四儿童先天性主动脉瓣狭窄
描述，相似的面部特征，和身心特点（威廉姆斯等，1961。
）。氏等人。（1962）报告三例，两男一女，与
主动脉瓣上狭窄，伴有牙齿异常和心理
延迟相类似。在1950的所有描述例严重特发性主动脉瓣狭窄和
高钙血症三个研究组（佛兰柯尼等人，1952；1953单元；克里利，1953）。该
协会不被认可为构成畸形综合征。在回顾他们的
例WS的典型表型（红色和pancau，1994，格林伯格1989）。黑
和博纳姆卡特（1963）相关的主动脉瓣狭窄的严重婴儿高钙血症，
提供新确认条件的WS和婴儿高钙血症之间的联系。
氏等人。（1964）发表了一系列的11例患者的表型特征概述的条件
。相似之处是明确的，特别是面部特征，牙科和
眼部异常，与人格特质。加西亚和弗里德曼（1964）与婴儿高钙血症和主动脉瓣上狭窄与所谓的“小精灵
相”和人格的
特性。这种形式的威廉姆斯综合征或
威廉姆斯氏综合征
与时间特征，患者不仅在儿科和/或心脏单位认可，而且在
成人智力发育延迟由于其特定的行为表型。如果
临床医生熟悉表型有可能与
合理水平的确定性做出诊断。然而，由于当时的诊断
经常延长情况罕见（Bjornstad，1994）。在7号染色体长臂缺失
弹性蛋白基因的发现已简化诊断（Curran等人。，1993；尤尔特等人，1993；