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Rudiger syndrome : ウィキペディア英語版
Rudiger syndrome

Rudiger syndrome is a congenital disorder characterized by the association of severe growth retardation with abnormalities of the extremities, urogenital abnormalities and facial abnormalities.〔(【引用サイトリンク】title=Orphanet: Rudiger syndrome )〕 It has been described in a family where an affected brother and sister died as infants. Both autosomal recessive and autosomal dominant inheritance have been suggested with the disorder.〔〔
The features ectrodactyly, ectodermal dysplasia and cleft palate have been described with Rudiger syndrome, giving it the rarely used designation "EEC syndrome". However, this is not to be confused with the formal EEC syndrome associated with chromosome 7.
It was characterized in 1971.
== References ==



抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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