We report a 25-week fetus with lethal Ellis-van Creveld syndrome who was diagnosed prenatally from the US detection of a narrow chest, postaxial polydactyly of the hands, short acro-/mesomelic limbs and a ventricular septal defect. The postnatal radiographic features of the skeleton confirmed the diagnosis. Literature review of the histopathology of the physeal growth plate is contradictory, varying between retardation of the hypertrophic chondrocytes without disorganization and marked disorganization of the proliferating chondrocytes. We investigated numerous sites of the enchondral ossification and observed retardation of the physeal growth plate in all sites and retardation with pronounced disorganization of the physeal growth plate in the upper mesomelic bone segments only. These data support the concept that Ellis-van Creveld syndrome is mainly a generalized disorder of the maturation of enchondral ossification.
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A Case of Ellis-van Creveld Syndrome.
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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.
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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.
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Article Synopsis
- Ellis-van Creveld syndrome (EVC) is a rare condition characterized by knee deformities, particularly affecting younger patients, with limited adult treatment documentation.
- A 23-year-old woman presented with bilateral knee pain and abnormal walking due to valgus knee deformities, which were confirmed through imaging.
- The surgical approach included osteotomies of the femurs and tibias, achieving good correction; despite mild residual deformity, the patient maintained stable and painless walking for 10 years after surgery.
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