Seckel-like syndrome in three siblings
Seckel-like syndrome in three siblings
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DOI：
10.1007/s100249900107
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发表时间：
1999-03-01
影响因子：
1.9
通讯作者：
Gilbert-Barness, E
中科院分区：
文献类型：
--
作者：
Arnold, SR;Spicer, D;Gilbert-Barness, E
塞克尔综合征被描述为原始的鸟头型侏儒症的原型。自从塞克尔最初定义这种疾病以来，报告的病例不到60例。除了特征性的颅面畸形和骨骼缺陷外，心血管、造血、内分泌和中枢神经系统也有异常。这种多效性暗示了遗传的异质性，并促使人们对宝贵的塞克尔综合征病例进行回顾。因此，塞克尔综合征的特征性诊断特征一直备受争议。虽然已经描述了染色体2q的缺失，但到目前为止，还没有确定遗传缺陷。我们报告了三例来自非血缘高加索父母的兄弟姐妹的塞克尔样综合征。除了典型的Seckel表型特征外，这三个病例都有严重脑积水的特征。我们回顾文献，并提出有一系列的塞克尔条件，共享一些共同的关键特征，但也展示了广泛的表型特征。
Seckel syndrome has been described as the prototype of the primordial bird-headed type of dwarfism. Since Seckel originally defined the disorder, less than 60 cases have been reported. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, and central nervous systems. This pleiotropy has implied genetic heterogeneity and prompted reviews of preciously reported cases of Seckel syndrome. As a result, the characteristic diagnostic features of Seckel syndrome have been highly debated. Although deletions in chromosome 2q have been described, to date, no genetic defect has been defined. We report three cases of Seckel-like syndrome in siblings from nonconsanguinous Caucasian parents. In addition to the typical Seckel phenotypic features, all three cases were characterized by severe hydrocephalus. We review the Literature and propose that there is a spectrum of Seckel conditions that share some common key features, but also demonstrate a wide range of phenotypic features.