Suppr超能文献

一名患有罕见表皮综合征女童的特发性发育性髋关节发育不良——病例报告

Idiopathic Developmental Dysplasia of Hip in a Female Child with a Rare Epidermal Syndrome- A Case Report.

作者信息

Mishra Eshaan, Mohapatra Nirmal C, Rana Rajesh, Das Soumitesh S, Mishra Chandrakanta

机构信息

Department of Orthopaedics, SCB Medical College and Hospital, Cuttack, Odisha, India.

Department of Cardiology, SCB Medical College and Hospital, Cuttack, Odisha, India.

出版信息

J Orthop Case Rep. 2024 Dec;14(12):89-92. doi: 10.13107/jocr.2024.v14.i12.5030.

Abstract

INTRODUCTION

Developmental dysplasia of the hip (DDH) describes a spectrum of disorders affecting the neonatal hip. Trachyonychia or twenty nail dystrophy refers to thin, brittle nails with excessive longitudinal ridging affecting all twenty nails. Alopecia universalis congenita (ALUNC) is a rare anomaly affecting skin and appendages. It shows a genetic preponderance with its autosomal recessive variety being the most common and severe variety.

CASE REPORT

We report a case showing idiopathic DDH in a female child with a rare epidermal syndrome consisting of Trachyonychia and ALUNC. The cutaneous symptoms show familial inheritance in the form of autosomal dominant inheritance.

CONCLUSION

This case report highlights the fact that DDH can be associated with other syndromes which require multidisciplinary evaluation and research.

摘要

引言

发育性髋关节发育不良(DDH)描述了一系列影响新生儿髋关节的疾病。糙甲症或二十甲营养不良是指指甲变薄、变脆,伴有过多纵向嵴,累及全部二十个指甲。先天性全秃(ALUNC)是一种影响皮肤及附属器的罕见异常。它具有遗传倾向,常染色体隐性类型最为常见且严重。

病例报告

我们报告一例患有罕见表皮综合征(包括糙甲症和先天性全秃)的女童特发性发育性髋关节发育不良病例。皮肤症状呈常染色体显性遗传的家族性遗传形式。

结论

本病例报告强调了发育性髋关节发育不良可能与其他需要多学科评估和研究的综合征相关这一事实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ab5/11632497/2bd4a97a9023/JOCR-14-89-g001.jpg

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