Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations
Introduction: Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder characterized by growth retardation, dysplastic nails, cardiac defects, dental abnormalities, and polydactyly. Early diagnosis and multidisciplinary management are essential for improving patient outcomes. Case Rep...
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| Format: | Article |
| Language: | English |
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Indian Orthopaedic Research Group
2025-01-01
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| Series: | Journal of Orthopaedic Case Reports |
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| Online Access: | https://jocr.co.in/wp/2025/01/01/ellis-van-creveld-syndrome-a-rare-case-report-with-emphasis-on-skeletal-manifestations/ |
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| author | Ibad Shah Ibrahim S Majeed |
| author_facet | Ibad Shah Ibrahim S Majeed |
| author_sort | Ibad Shah |
| collection | DOAJ |
| description | Introduction:
Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder characterized by growth retardation, dysplastic nails, cardiac defects, dental abnormalities, and polydactyly. Early diagnosis and multidisciplinary management are essential for improving patient outcomes.
Case Report:
We present a case of a 12-year-old male with EVC, born to consanguineous parents, who presented with bilateral bowing of the legs and difficulty walking. The patient exhibited classic features of EVC, including short stature, bilateral polydactyly, dysplastic nails, dental anomalies, and a history of cardiac defects. Radiological evaluation confirmed the diagnosis.
Conclusion:
This case highlights the importance of early diagnosis and comprehensive management in EVC syndrome. Recognizing the characteristic clinical features is key to timely intervention and improved quality of life. |
| format | Article |
| id | doaj-art-cf7bc3f63d014b2eae7dc669f60294d3 |
| institution | DOAJ |
| issn | 2250-0685 2321-3817 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Indian Orthopaedic Research Group |
| record_format | Article |
| series | Journal of Orthopaedic Case Reports |
| spelling | doaj-art-cf7bc3f63d014b2eae7dc669f60294d32025-08-20T03:22:19ZengIndian Orthopaedic Research GroupJournal of Orthopaedic Case Reports2250-06852321-38172025-01-01151364010.13107/jocr.2025.v15.i01.5116Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal ManifestationsIbad ShahIbrahim S MajeedIntroduction: Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder characterized by growth retardation, dysplastic nails, cardiac defects, dental abnormalities, and polydactyly. Early diagnosis and multidisciplinary management are essential for improving patient outcomes. Case Report: We present a case of a 12-year-old male with EVC, born to consanguineous parents, who presented with bilateral bowing of the legs and difficulty walking. The patient exhibited classic features of EVC, including short stature, bilateral polydactyly, dysplastic nails, dental anomalies, and a history of cardiac defects. Radiological evaluation confirmed the diagnosis. Conclusion: This case highlights the importance of early diagnosis and comprehensive management in EVC syndrome. Recognizing the characteristic clinical features is key to timely intervention and improved quality of life.https://jocr.co.in/wp/2025/01/01/ellis-van-creveld-syndrome-a-rare-case-report-with-emphasis-on-skeletal-manifestations/ellis-van creveld syndromechondrodysplasiapolydactylyectodermal dysplasiamultidisciplinary management |
| spellingShingle | Ibad Shah Ibrahim S Majeed Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations Journal of Orthopaedic Case Reports ellis-van creveld syndrome chondrodysplasia polydactyly ectodermal dysplasia multidisciplinary management |
| title | Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations |
| title_full | Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations |
| title_fullStr | Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations |
| title_full_unstemmed | Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations |
| title_short | Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations |
| title_sort | ellis van creveld syndrome a rare case report with emphasis on skeletal manifestations |
| topic | ellis-van creveld syndrome chondrodysplasia polydactyly ectodermal dysplasia multidisciplinary management |
| url | https://jocr.co.in/wp/2025/01/01/ellis-van-creveld-syndrome-a-rare-case-report-with-emphasis-on-skeletal-manifestations/ |
| work_keys_str_mv | AT ibadshah ellisvancreveldsyndromeararecasereportwithemphasisonskeletalmanifestations AT ibrahimsmajeed ellisvancreveldsyndromeararecasereportwithemphasisonskeletalmanifestations |