頁籤選單縮合
題名 | Restrictive Dermopathy in Two Sisters=束縛性皮症發生於兩姊妹 |
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作者 | 侯家瑋; 麥建方; | 書刊名 | 長庚醫學 |
卷期 | 26:7 2003.07[民92.07] |
頁次 | 頁510-514 |
分類號 | 417.509 |
關鍵詞 | 束縛性皮症; 關節收縮; 胎兒運動減退之變形順序; Restrictive dermopathy; Joint contractures; Arthrogryposis; Fetal akinesia/hypokinesia deformation sequence; |
語文 | 英文(English) |
中文摘要 | 束縛性皮症(restrictive dermopathy, RD)是一種極罕見且致命的皮膚異常疾病。RD乃以常染色體隱性方式遺傳,其共同症狀是皮膚呈現薄且透明,緊繃,容易自然或因外力撕裂剝落,臉部則表現固定張開的O型嘴,小鼻子及小下巴,無睫毛,眼瞼狹縮,及全身關範收縮(arthrogryposis)。吾等報告一對姐妹的均罹患RD,她們分別在出生後6及8天死於感染及呼吸衰辦。此種僵硬皮膚缺陷可導致胎兒運動減退之變形順序。(fetal akinesia/hypokinesia deformation sequence),也可以解釋RD病人特殊的臉部畸形。 |
英文摘要 | Restrictive dermopathy (RD) is a very rare and lethal congenital skin disease. It is inherited by an autosomal recessive pattern with characteristic features of abnormally rigid sin, generalized joint contractures (arthropryposis), and dysmorphic facies consisting of downward slanting eyes, a small pinched nose, low-set ears, a fiexed open mouth in the O-position, and micrognathia. We report on 2 siblings from consecutive pregnancies affected with RD. they died of possible sepsis and respiratory insufficiency at 6 and 8 days after birth, respectively. This kinds of stiff skin defect may lead to a fetal akinesia/hypokinesia deformation sequence, which causes the facial abnormalities of RD, as presented in these cases. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。