Suppr超能文献

一种致死性新生儿侏儒症,伴有短肋骨、多指(趾)畸形、颅骨缝早闭、腭裂、心血管和泌尿生殖系统异常以及严重的骨化缺陷。

A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect.

作者信息

Piepkorn M, Karp L E, Hickok D, Wiegenstein L, Hall J G

出版信息

Teratology. 1977 Dec;16(3):345-50. doi: 10.1002/tera.1420160315.

Abstract

A case of severe lethal neonatal dwarfism is reported. It appears to be a new variety of short rib-polydactyly dwarfism. It is characterized by severe lack of ossification of all bones except the clavicle and the presence of cleft palate, as well as genitourinary, central nervous system and cardiovascular anomalies. Electronmicroscopy revealed accumulations of granular material in the chondrocytes.

摘要

报告了一例严重致死性新生儿侏儒症病例。它似乎是短肋多指侏儒症的一种新类型。其特征是除锁骨外所有骨骼严重缺乏骨化,伴有腭裂,以及泌尿生殖系统、中枢神经系统和心血管系统异常。电子显微镜检查显示软骨细胞中有颗粒物质积聚。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验