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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Dubowitz syndrome ： ウィキペディア英語版 Dubowitz syndrome Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance (small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids). Symptoms vary among patients, but other characteristics include a soft, high pitched voice; partial webbing of fingers and toes; palate deformations; genital abnormalities; eczema; hyperactivity; preference for concrete thinking over abstract; language difficulties and aversion to crowds. The pathogenesis of the disease is yet to be identified and no medical tests can definitively diagnose the disease.〔(【引用サイトリンク】title=Dubowitz Syndrome Support Network )〕 The main method of diagnosis is through identification of facial phenotype. Since it was first described in 1965 by English physician Victor Dubowitz, over 140 cases have been reported worldwide. Although the majority of cases have been reported from the United States, Germany and Russia, the disorder appears to affect both genders and all ethnicities equally.〔 == Genetic component == Although the exact pathology of Dubowitz syndrome is not yet known, it is almost certain that it has a genetic component. It is classified as an autosomal recessive disease. Furthermore, there is an occasional parental consanguinity. Several cases point to Dubowitz syndrome occurring in monozygotic twins, siblings as well as cousins. There is considerable phenotypic variability between cases, especially in regards to intelligence. Although there is considerable evidence pointing to the genetic basis of this disorder, there is phenotypic similarity to fetal alcohol syndrome and further studies need to be done in order to determine whether this environmental agent has an effect on the expression of the genotype. Breakdown of chromosomes has been known to occur.〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Dubowitz syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.