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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.

DOI:10.13107/jocr.2024.v14.i12.5030
PMID:39669041
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11632497/
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/6ab5/11632497/28f1d241bd7f/JOCR-14-89-g008.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ab5/11632497/28f1d241bd7f/JOCR-14-89-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ab5/11632497/2bd4a97a9023/JOCR-14-89-g001.jpg
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本文引用的文献

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Developmental Dysplasia of the Hip (DDH): Etiology, Diagnosis, and Management.发育性髋关节发育不良（DDH）：病因、诊断与治疗
Cureus. 2023 Aug 9;15(8):e43207. doi: 10.7759/cureus.43207. eCollection 2023 Aug.
2
Developmental Dysplasia of the Hip: Prevalence and Correlation with Other Diagnoses in Physiotherapy Practice-A 5-Year Retrospective Review.发育性髋关节发育不良：物理治疗实践中的患病率及其与其他诊断的相关性——一项5年回顾性研究
Children (Basel). 2022 Feb 12;9(2):247. doi: 10.3390/children9020247.
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Developmental Dysplasia of Hip: Perspectives in Genetic Screening.
发育性髋关节发育不良：基因筛查的视角
Med Sci (Basel). 2019 Apr 11;7(4):59. doi: 10.3390/medsci7040059.
4
Rare Presentation of Alopecia Universalis Congenita and Twenty-nail Dystrophy in Siblings.先天性全秃与二十甲营养不良症在兄弟姐妹中的罕见表现
Int J Trichology. 2017 Apr-Jun;9(2):63-66. doi: 10.4103/ijt.ijt_48_17.
5
Trachyonychia and Twenty-Nail Dystrophy: A Comprehensive Review and Discussion of Diagnostic Accuracy.甲营养不良与二十甲营养不良：诊断准确性的全面综述与讨论
Skin Appendage Disord. 2016 Sep;2(1-2):7-13. doi: 10.1159/000445544. Epub 2016 Apr 30.
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Trachyonychia: case report and review of the literature.甲营养不良：病例报告及文献综述
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