Eshaan Mishra, Nirmal C Mohapatra, Rajesh Rana, Soumitesh S Das, Chandrakanta Mishra
{"title":"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。","authors":"Eshaan Mishra, Nirmal C Mohapatra, Rajesh Rana, Soumitesh S Das, Chandrakanta Mishra","doi":"10.13107/jocr.2024.v14.i12.5030","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case report: </strong>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.</p><p><strong>Conclusion: </strong>This case report highlights the fact that DDH can be associated with other syndromes which require multidisciplinary evaluation and research.</p>","PeriodicalId":16647,"journal":{"name":"Journal of Orthopaedic Case Reports","volume":"14 12","pages":"89-92"},"PeriodicalIF":0.0000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11632497/pdf/","citationCount":"0","resultStr":"{\"title\":\"Idiopathic Developmental Dysplasia of Hip in a Female Child with a Rare Epidermal Syndrome- A Case Report.\",\"authors\":\"Eshaan Mishra, Nirmal C Mohapatra, Rajesh Rana, Soumitesh S Das, Chandrakanta Mishra\",\"doi\":\"10.13107/jocr.2024.v14.i12.5030\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>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.</p><p><strong>Case report: </strong>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.</p><p><strong>Conclusion: </strong>This case report highlights the fact that DDH can be associated with other syndromes which require multidisciplinary evaluation and research.</p>\",\"PeriodicalId\":16647,\"journal\":{\"name\":\"Journal of Orthopaedic Case Reports\",\"volume\":\"14 12\",\"pages\":\"89-92\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11632497/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Orthopaedic Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.13107/jocr.2024.v14.i12.5030\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Orthopaedic Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.13107/jocr.2024.v14.i12.5030","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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.