Suppr超能文献

基夫林综合征和彼得斯-普拉斯综合征:它们是同一种疾病吗?

Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder?

作者信息

Thompson E M, Winter R M, Baraitser M

机构信息

Kennedy-Galton Centre, Northwick Park Hospital, Harrow, Middlesex, UK.

出版信息

Clin Dysmorphol. 1993 Oct;2(4):301-16.

PMID:7508317
Abstract

Manifestations of Peters'-Plus syndrome include Peters' anomaly, short stature, small hands, mental retardation, abnormal ears and cleft lip and palate. 'Kivlin' syndrome is a similar disorder involving Peters' anomaly, short stature, short limbs, delayed development, facial clefting in some, ear abnormalities and a characteristic facial appearance attributable mainly to a 'cupid's bow' shape of the upper lip. Two new adult cases of Peters'-Plus are described, and follow-up information on a previously reported case of 'Kivlin' syndrome is presented. The two syndromes are reviewed and it is concluded that they are the same autosomal recessively inherited disorder, which we suggest should be called Peters'-Plus syndrome.

摘要

彼得斯-普拉斯综合征的表现包括彼得斯异常、身材矮小、小手、智力迟钝、耳部异常以及唇腭裂。“基夫林”综合征是一种类似的疾病,包括彼得斯异常、身材矮小、四肢短小、发育迟缓、部分患者有面部裂隙、耳部异常以及一种主要归因于上唇呈“丘比特之弓”形状的特征性面容。本文描述了两例新的成年彼得斯-普拉斯综合征病例,并给出了先前报道的一例“基夫林”综合征病例的随访信息。对这两种综合征进行了综述,得出结论认为它们是同一种常染色体隐性遗传疾病,我们建议应将其称为彼得斯-普拉斯综合征。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验