Williams syndrome: an update on clinical and molecular aspects
Williams syndrome: an update on clinical and molecular aspects
复制标题
威廉姆斯综合征：临床和分子方面的最新进展
DOI：
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发表时间：
1999
影响因子：
5.2
通讯作者：
Kay Metcalfe
中科院分区：
文献类型：
--
作者：
Kay Metcalfe
威廉姆斯综合征是一种与特征性身体和行为表型相关的神经发育障碍。 Williams 等人于 1961 年描述了该综合征，他们认识到一群患有瓣膜上主动脉狭窄、智力低下和面部特征畸形的儿童。1 Beuren 等人独立描述了该综合征，并注意到这些儿童的友善天性，后来将其扩展至包括牙齿异常和外周肺动脉狭窄。2 3 随后的作者认识到与特发性高钙血症的关联。#### 关键信息
自从 19934 年发现威廉姆斯综合征是由染色体微缺失（其特征是连续基因缺失所致）引起以来，人们越来越有兴趣试图解开该综合征认知和行为方面的潜在分子基础。
患有威廉姆斯综合征的婴儿通常在顺利怀孕后出生，平均出生体重为 2760 克。在新生儿期，喂养问题很常见，并且常常伴有呕吐和体重增加缓慢。经常哭闹、睡眠问题、便秘等也是家长们经常反映的问题，其中约10%的病例会出现直肠脱垂。超过三分之一的病例发生疝气，最常见的是腹股沟疝气。部分婴儿被发现患有特发性高钙血症，可通过低钙和维生素 D 限制饮食进行治疗。尽管测试中降钙素对钙负荷的反应延迟，但高钙血症的潜在激素基础尚不清楚。高钙血症通常会在 18-24 个月大时自发消退。
发展里程碑...
Williams syndrome is a neurodevelopmental disorder associated with a characteristic physical and behavioural phenotype. The syndrome was described in 1961 by Williams et al who recognised a group of children with supravalvar aortic stenosis, mental retardation, and dysmorphic facial features.1 Beuren et al independently described the syndrome, noting also the friendly nature of these children, and later expanded it to include dental anomalies and peripheral pulmonary artery stenosis.2 3 Subsequent authors recognised the association with idiopathic hypercalcaemia.#### Key messages
Since the discovery in 19934 that Williams syndrome is caused by a chromosomal microdeletion, features resulting from the deletion of contiguous genes, there has been increasing interest in trying to unravel the underlying molecular basis of the cognitive and behavioural aspects of this syndrome.
Infants with Williams syndrome are usually born following an uneventful pregnancy with an average birth weight of 2760 g. In the neonatal period feeding problems are common and often accompanied by vomiting and poor weight gain. Frequent crying, sleeping problems, and constipation are also frequently reported by parents, and rectal prolapse occurs in around 10% of cases. Hernias, most commonly inguinal, occur in over a third of cases. A proportion of infants are found to have idiopathic hypercalcaemia, which is treated with a low calcium and vitamin D restricted diet. The underlying hormonal basis for the hypercalcaemia is not known, although there is a delayed calcitonin response to a calcium load on testing. Resolution of hypercalcaemia occurs spontaneously, usually at around 18–24 months of age.
Developmental milestones …
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影响因子：
4.4
作者：
Xiaojun Lu;Xun Meng;C. Morris;M. Keating
通讯作者：
Xiaojun Lu;Xun Meng;C. Morris;M. Keating
Williams 综合征中 7q11.23 缺失是由于不等减数分裂交叉造成的。
影响因子：
9.8
作者：
Urbán,Z;Helms,C;Fekete,G;Csiszár,K;Bonnet,D;Munnich,A;Donis-Keller,H;Boyd,CD
通讯作者：
Boyd,CD
影响因子：
9.8
作者：
L. Jurado;R. Peoples;P. Kaplan;B. Hamel;U. Francke
通讯作者：
L. Jurado;R. Peoples;P. Kaplan;B. Hamel;U. Francke
删除%20的%20的%20弹性蛋白%20基因%20at%207q11.23%20发生在%20中的%20大约%2090%%20的%20患者%20患有%20Williams%20综合征。
影响因子：
9.8
作者：
Nickerson,E;Greenberg,F;Keating,MT;McCaskill,C;Shaffer,LG
通讯作者：
Shaffer,LG
威廉姆斯综合征患者性早熟有多常见？
影响因子：
0.7
作者：
Scothorn,DJ;Butler,MG
通讯作者：
Butler,MG