您要查找的是不是：
- Conclusion(s): Aplasia cutis congenita is easily ignored when the lesion is small. 當先天性表皮發(fā)育不全傷口面積很小時(shí)，極易被忽略。
- Objective To explore the clinical manifestations, electroencephalography(EEG) findings and treatment of eyelid myoclonia with absences (EMA). 目的探討眼瞼肌陣攣失神的臨床、腦電圖特點(diǎn)及治療。
- We report this case and also review the literature, and then we suggest a checklist for aplasia cutis congenita. 我們報告此一病例，并整理文獻列出一個(gè)清單，用以處理先天性表皮發(fā)育不全之作業(yè)流程。
- A case of dyskeratosis congenita is reported and the family pedigree is also analyzed. 報告1例先天性角化不良并附家系調查報告。
- Skin biopsy was obtained from five cases,revealing pathological changes consistent with dyskeratosis congenita. 5例患者的皮損曾行組織病理學(xué)檢查,其改變均與本病相符。
- A hereditary form, myotonia congenita (Thomsen's disease), can affect eyelid and eye motion, swallowing, or talking. 具遺傳性的先天性肌強直（湯姆生氏?。?，會(huì )影響眼瞼和眼睛的運動(dòng)、吞咽或說(shuō)話(huà)。
- Objective: As shown in published literatures, aplasia cutis congenita (ACC) is an uncommon anomaly among newborns and is often overlooked when the lesion is small. 摘要目的：先天性表皮發(fā)育不全為一種少見(jiàn)的先天性疾病，但往往因為缺損體積過(guò)小而被忽略。
- There is an association with other abnormalities in at least 50% of the patients with cutis marmorata telangiectatica congenita. 本文所報告的病例乃是一位三十八天大的女?huà)雰?，出生時(shí)即有此皮膚病兆。
- As shown in published literatures, aplasia cutis congenita (ACC) is an uncommon anomaly among newborns and is often overlooked when the lesion is small. 摘要目的：先天性表皮發(fā)育不全為一種少見(jiàn)的先天性疾病，但往往因為缺損體積過(guò)小而被忽略。
- Unchecked telomere loss by HSC, meanwhile, would appear to play a significant role in the pathogenesis of bone marrow failure, as observed in the condition dyskeratosis congenita. 當觀(guān)察到角化不良的現象時(shí)，端粒缺失可能在骨髓衰竭的發(fā)病中起關(guān)鍵作用。
- Dyskeratosis congenita (DKC) is a rare inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. 先天性角化不良癥（DKC）為一少見(jiàn)之遺傳性疾病，三項主要特徵為皮膚色素異常、 指甲生長(cháng)異常及黏膜白斑癥。
- Dyskeratosis congenita （DC） is a rare inherited disorder characterized by the triad of heterochromia-like pigmentation, nail dystrophy and mucosal leucoplakia in the mouth or vagina. 先天性角化不良是一種少見(jiàn)的先天遺傳性皮膚病，其臨床三聯(lián)征包括：甲板營(yíng)養不良，口腔或陰道等可出現白斑，皮膚異色癥樣的色素沉著(zhù)。
- The telomere reserve of neonatal stem cells suffices for about a decade, judging from the age of onset of dyskeratosis congenita a disease associated with inadequate telomere maintenance. 從先天性角化不良癥（一種端粒維護不當的相關(guān)疾?。┌l(fā)作年齡來(lái)判斷,新生兒的干細胞端粒儲備足夠滿(mǎn)足約10年。
- Keywords CJD;Dementia;Myoclonia;EEG;DWI; 癡呆;肌陣攣;腦電圖;DWI;
- Aplasia cutis congenita (ACC) is a rare developmental malformation characterized by the absence of skin, and often extends to bone or dura in a localized or widespread area at birth. 摘要先天性皮膚發(fā)育不良癥是一種罕見(jiàn)的先天性發(fā)育異常，臨床上可見(jiàn)在出生時(shí)，有局限性或廣泛性的皮膚缺損，且常常深達骨組織或是軟腦膜。
- dyssynergia cerebellaris myoclonia (拉)肌陣攣性小腦協(xié)同失調
- SM is often inherited as an autosomal dominant trait of pachyonychia congenita type 2.The presence of multiple pilosebaceous cyst in PC-2 is the predominant feature distinguishing PC-2 from PC-1. SM也可為多種綜合征的一種表現，如先天性厚甲癥-2 型(pachyonychia congenita-2 ,PC-2型)，多發(fā)性皮脂腺囊腫是PC-2型與PC-1型鑒別的主要特征。
- arthrochalasis multiplex congenita 先天性多發(fā)性關(guān)節弛緩
- Keywords pachyonychia;congenita;family survey; 甲肥厚;先天性;家系調查;
- Keywords pachyonychia congenita;survey;pedigree; 甲肥厚;先天性;調查;家系;
