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两名患有腭裂、睑缘粘连、牙槽粘连和外胚层缺陷的同胞:一种新的隐性综合征?

Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome?

作者信息

Seres-Santamaria A, Arimany J L, Muñiz F

机构信息

Department of Genetics, Clínica Teknon, Barcelona, Spain.

出版信息

J Med Genet. 1993 Sep;30(9):793-5. doi: 10.1136/jmg.30.9.793.

Abstract

Hay and Wells in 1976 reported seven patients from four families who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects, and cleft lip and palate. The inheritance pattern was determined to be autosomal dominant. This condition is known as AEC syndrome or Hay-Wells syndrome. We report a family with two sibs showing some of these features and congenital adhesions between the upper and lower jaws (alveolar synechiae). There seems to be a recessive pattern of inheritance as neither of the parents has any features of the syndrome. This could be described as a recessive form of Hay-Wells syndrome with additional features or be named as a new syndrome.

摘要

1976年,海伊和韦尔斯报告了来自四个家族的七名患者,他们患有一种遗传性疾病,主要特征为睑缘粘连、外胚层缺陷以及唇腭裂。遗传模式被确定为常染色体显性遗传。这种疾病被称为AEC综合征或海伊-韦尔斯综合征。我们报告了一个有两个兄弟姐妹的家庭,他们表现出了其中一些特征,并且上下颌之间存在先天性粘连(牙槽粘连)。由于父母双方均无该综合征的任何特征,因此似乎存在隐性遗传模式。这可以被描述为具有额外特征的海伊-韦尔斯综合征隐性形式,或者被命名为一种新的综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/17ec/1016541/98f0fc70b0bc/jmedgene00011-0084-a.jpg

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