女性儿童伴罕见表皮综合征的髋关节特发性发育不良1例报告。

Eshaan Mishra, Nirmal C Mohapatra, Rajesh Rana, Soumitesh S Das, Chandrakanta Mishra
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引用次数: 0

摘要

简介: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。短甲骨或二十指甲营养不良是指指甲薄而脆,纵向隆起过多,影响所有二十根指甲。先天性泛秃是一种罕见的影响皮肤和附属物的异常。它具有遗传优势,常染色体隐性变异是最常见和最严重的变种。病例报告:我们报告一个病例显示特发性DDH在一个罕见的表皮综合征的女性儿童组成的短爪和ALUNC。皮肤症状表现为常染色体显性遗传的家族性遗传。结论:本病例报告强调了DDH可能与其他综合征相关的事实,这些综合征需要多学科评估和研究。
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Idiopathic Developmental Dysplasia of Hip in a Female Child with a Rare Epidermal Syndrome- A Case Report.

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.

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自引率
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发文量
128
审稿时长
30 weeks
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