Suppr超能文献

一名患有科妮莉亚·德朗热综合征的9岁女孩:病例报告及文献综述

A Nine-Year-Old Girl With Cornelia de Lange Syndrome: A Case Report and Review of the Literature.

作者信息

Bahari Hanae, Zahiri Hind, Elouali Aziza, Rkain Maria, Babakhouya Abdeladim

机构信息

Department of Pediatrics, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy, Mohammed I University of Oujda, Oujda, MAR.

出版信息

Cureus. 2024 Nov 19;16(11):e74007. doi: 10.7759/cureus.74007. eCollection 2024 Nov.

Abstract

Cornelia de Lange syndrome is a genetic disorder that affects multiple systems. It is characterized by growth delays and psychomotor retardation associated with various anomalies, including hirsutism, facial dysmorphism, cardiac abnormalities, upper-extremity malformations, and gastrointestinal disorders. Early detection and appropriate management of associated disorders are essential for achieving favorable outcomes. We present our first case of Cornelia de Lange syndrome, diagnosed at the age of nine years in the Pediatrics Department of Mohammed VI University Hospital in Oujda, Morocco.

摘要

科妮莉亚·德·朗格综合征是一种影响多个系统的遗传性疾病。其特征为生长发育迟缓以及与多种异常相关的精神运动发育迟缓,这些异常包括多毛症、面部畸形、心脏异常、上肢畸形和胃肠道疾病。对相关疾病进行早期检测和适当管理对于取得良好预后至关重要。我们报告了首例科妮莉亚·德·朗格综合征病例,该病例在摩洛哥乌季达穆罕默德六世大学医院儿科于9岁时被诊断出来。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6d0/11657614/0e135c5ff77a/cureus-0016-00000074007-i01.jpg

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