4.2 Article

Noonan-like syndrome with loose anagen hair: A new syndrome?

期刊

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 118A, 期 3, 页码 279-286

出版社

WILEY
DOI: 10.1002/ajmg.a.10923

关键词

loose anagen hair; Noonan syndrome; CFC syndrome

向作者/读者索取更多资源

We present three children with short stature, the same facial phenotype, macrocephaly, enlarged cerebral spinal fluid spaces, short neck with redundant skin, severe GH deficiency, mild psychomotor delay with attention deficit/hyperactivity disorder (ADHD), mild dilatation of the pulmonary root in two of them, and a unique combination of ectodermal abnormalities. Their appearance, not completely typical of Noonan syndrome, the behavioral phenotype, GH deficiency, darkly pigmented and hairless skin, and the unusual aspect of the hair, defined as loose anagen hair syndrome did not fit any known condition. We postulate that these children may represent a distinct, previously unreported syndrome that we would name Noonan-like syndrome with loose anagen hair. (C) 2003 Wiley-Liss, Inc.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.2
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据