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梅热氏病(家族性早发性淋巴水肿)与腭裂:一家系报告及文献复习

Meige disease (familial lymphedema praecox) and cleft palate: report of a family and review of the literature.

作者信息

Figueroa A A, Pruzansky S, Rollnick B R

出版信息

Cleft Palate J. 1983 Apr;20(2):151-7.

PMID:6342849
Abstract

This is a report of a family with lymphedema praecox and cleft palate. The mother had only lymphedema of the lower extremities; she gave birth to five sons, 3 of whom had both lymphedema of the lower extremities and cleft palate. Others have reported similar associations in the literature without calling attention to their relationship. In familial cases, an autosomal dominant mode of transmission with variable expression has been suggested. A common pathogenetic mechanism that might account for the localized lymphedema and associated cleft palate can only be speculated at this stage of our understanding of the condition.

摘要

这是一份关于一个患有早发性淋巴水肿和腭裂的家庭的报告。母亲仅患有下肢淋巴水肿;她育有五个儿子,其中三个既有下肢淋巴水肿又有腭裂。其他文献中也报道过类似的关联,但未提及它们之间的关系。在家族性病例中,已提出一种具有可变表达的常染色体显性遗传模式。在我们对该病症的理解现阶段,只能推测一种可能解释局部淋巴水肿和相关腭裂的共同发病机制。

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