Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome.
Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome.
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常染色体隐性外胚层发育不良：I. 未描述的发育不良/畸形综合征。
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发表时间：
1991
期刊：
影响因子：
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通讯作者：
Marcos Ramela
中科院分区：
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作者：
T. Bustos;V. Simosa;J. Pinto‐Cisternas;W. Abramovits;Liliana Jolay;Luis Rodriguez;L. Fernández;Marcos Ramela
我们描述了7个家庭的27个人彼此相关的高概率谁表现出外胚层发育不良和其他异常影响女性的严重程度与男性变量expressivity。所有的父母都是正常的。这些家庭被发现在一个相对孤立的和近亲繁殖的人口非常小的邻近社区从加勒比海岛，玛格丽塔岛，在委内瑞拉东北部（新埃斯帕塔州）。所有患者共同的临床表现不能归类于已知外胚层发育不良的异质性组，并且已发表的病例与我们的患者不相似。我们认为，这种情况构成了一个新认识的常染色体隐性遗传性发育不良/畸形综合征的外胚层发育不良。
We describe 27 individuals of 7 families related to each other with high probability who showed manifestations of ectodermal dysplasia and other anomalies affecting females as severely as males with variable expressivity. All parents were normal. These families were detected in a relatively isolated and inbred population with very small neighbouring communities from a Caribbean Sea island, Margarita Island, in Northeastern Venezuela (Nueva Esparta State). The clinical picture common to all patients could not be classified within the heterogeneous group of known ectodermal dysplasias and the published cases do not resemble our patients. We believe that this condition constitutes a newly recognized autosomal recessive dysplasia/malformation syndrome of ectodermal dysplasia.