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A Case Report on Ellis-van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications
Monusha Mohan1, S Raja Sabapathy1
1Department of Plastic, Hand and Reconstructive Microsurgery, Ganga Hospital, Coimbatore, Tamil Nadu, India.
Abstract:
Postaxial polydactyly (PAP) in the form of rudimentary soft tissue masses is quite common. Management involves ligation or surgical excision. Rarely do literature discussions cover complex variants in which the extra finger is fully developed. Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is a rare disorder characterized by PAP. When chondral dysplasia encompasses PAP, dwarfism, and genu valgum, ectodermal dysplasia involves nails and teeth. We describe two EVC cases. When one had cardiac malformations, the other had dental anomalies. One of them underwent genu valgum correction and removal of the additional finger. The hand surgery proved complex due to fusion of its metacarpal with the fifth metacarpal. Pediatric Outcomes Data Collection Instrument (PODCI) scores at 1.5 and 2.5 years after hand and knee surgeries were excellent. A multidisciplinary approach is essential to achieve comprehensive care. Additional embryological research is necessary to elucidate the clinical manifestations described in this report.
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