A Case Report on Ellis–van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications

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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Publication Details

Journal
Indian Journal of Plastic Surgery
Published
2024-11-08
DOI
https://doi.org/10.1055/s-0044-1793845
Citations
1
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
Field-Weighted Citation Impact
0.55
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article

A Case Report on Ellis–van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications

Monusha Mohan, S. Raja Sabapathy
1 citations
Indian Journal of Plastic Surgery
Genetic and Kidney Cyst Diseases
0.55
article

A Case Report on Ellis–van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications

Monusha Mohan, S. Raja Sabapathy
article en
1 citations

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.

Indian Journal of Plastic SurgeryVol. 57(S 01)
Ganga Hospital (IN)
Openalex Percentile: Top 25%
Genetic and Kidney Cyst Diseases
0.55
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