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- heredoretinopathia congenita 遗传性视网膜病
- Conclusion(s): Aplasia cutis congenita is easily ignored when the lesion is small. 当先天性表皮发育不全伤口面积很小时，极易被忽略。
- We report this case and also review the literature, and then we suggest a checklist for aplasia cutis congenita. 我们报告此一病例，并整理文献列出一个清单，用以处理先天性表皮发育不全之作业流程。
- A case of dyskeratosis congenita is reported and the family pedigree is also analyzed. 报告1例先天性角化不良并附家系调查报告。
- Skin biopsy was obtained from five cases,revealing pathological changes consistent with dyskeratosis congenita. 5例患者的皮损曾行组织病理学检查,其改变均与本病相符。
- A hereditary form, myotonia congenita (Thomsen's disease), can affect eyelid and eye motion, swallowing, or talking. 具遗传性的先天性肌强直（汤姆生氏病），会影响眼睑和眼睛的运动、吞咽或说话。
- 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：先天性表皮发育不全为一种少见的先天性疾病，但往往因为缺损体积过小而被忽略。
- There is an association with other abnormalities in at least 50% of the patients with cutis marmorata telangiectatica congenita. 本文所报告的病例乃是一位三十八天大的女婴儿，出生时即有此皮肤病兆。
- 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：先天性表皮发育不全为一种少见的先天性疾病，但往往因为缺损体积过小而被忽略。
- 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. 当观察到角化不良的现象时，端粒缺失可能在骨髓衰竭的发病中起关键作用。
- Dyskeratosis congenita (DKC) is a rare inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. 先天性角化不良症（DKC）为一少见之遗传性疾病，三项主要特徵为皮肤色素异常、 指甲生长异常及黏膜白斑症。
- 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种少见的先天遗传性皮肤病，其临床三联征包括：甲板营养不良，口腔或阴道等可出现白斑，皮肤异色症样的色素沉着。
- 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. 从先天性角化不良症（一种端粒维护不当的相关疾病）发作年龄来判断,新生儿的干细胞端粒储备足够满足约10年。
- 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. 摘要先天性皮肤发育不良症是一种罕见的先天性发育异常，临床上可见在出生时，有局限性或广泛性的皮肤缺损，且常常深达骨组织或是软脑膜。
- 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也可为多种综合征的一种表现，如先天性厚甲症-2 型(pachyonychia congenita-2 ,PC-2型)，多发性皮脂腺囊肿是PC-2型与PC-1型鉴别的主要特征。
- arthrochalasis multiplex congenita 先天性多发性关节弛缓
- Keywords pachyonychia;congenita;family survey; 甲肥厚;先天性;家系调查;
- Keywords pachyonychia congenita;survey;pedigree; 甲肥厚;先天性;调查;家系;
- benign amyotonia congenita syndrome 良性先天性肌弛缓综合征
- Neonatal lethal osteogenesis imperfecta congenita 先天性新生儿致死性成骨不全
