Suppr超能文献

短肋多指综合征的喉部表现:病例报告及胚胎学关联

Laryngeal findings in short rib polydactyly syndrome: case report and embryological correlations.

作者信息

Knapp C H, Santin-Hodges A, Cole R R

机构信息

Department of Otolaryngology-Head and Neck Surgery, University of Texas Health Science Center, Houston 77030.

出版信息

Laryngoscope. 1990 Jun;100(6):579-82. doi: 10.1288/00005537-199006000-00005.

Abstract

Short Rib Polydactyly Syndrome (SRPS) is a group of rare congenital disorders characterized by polydactyly, short limbs, and short ribs. Infants with type I SRPS (Majewski syndrome) may exhibit dysgenesis of the larynx, which is manifested by epiglottic hypoplasia. Photographic documentation of laryngeal findings obtained at autopsy in an affected infant is provided. To our knowledge, such photographic documentation has not been previously published. Normal laryngeal development is reviewed, based on the Carnegie system of staging. The developmental errors leading to SRPS are thought to occur at 33 to 48 days of fetal life (Carnegie stages 15 through 19).

摘要

短肋多指综合征(SRPS)是一组罕见的先天性疾病,其特征为多指、四肢短小和肋骨短小。I型SRPS(马耶夫斯基综合征)婴儿可能出现喉发育不全,表现为会厌发育不全。本文提供了一名患病婴儿尸检时获得的喉部检查结果的照片记录。据我们所知,此前尚未发表过此类照片记录。基于卡内基分期系统回顾了正常的喉部发育过程。导致SRPS的发育错误被认为发生在胎儿生命的33至48天(卡内基分期15至19期)。

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