A case of Ellis-van Creveld syndrome in Palestine

Abstract

Background: Ellis-van Creveld syndrome (EVC) causes chondral and ectodermal abnormalities. Although the precise prevalence is still unknown, the Amish group in the United States most frequently reports this uncommon sickness. Case presentation: The reported case was of a 2-year-old female patient presented with dysmorphic facial and digital features, polydactyly, dwarfism, inability to walk normally, and multiple cardiac abnormalities. On examination, the patient\'s growth parameters were below the 5th percentile, with a weight of 10 kg, height of 72 cm, and head circumference of 45 cm (10th percentile). The patient had sparse, thin hair with bi-temporal narrowing and frontal bossing. The patient was advised to undergo surgery, which included AV canal repair, atrial septal defect closure, VSD closure, Mitral and tricuspid valve cleft closure, and left SVC tunneling to the right atrium. One week after the operation, the patient developed sudden bilateral visual impairment, with no hemorrhage or space-occupying lesions. The patient was discharged on day 15 after surgery, and although stable, the visual impairment remained. Conclusion: This case is believed to be one of the first cases in Palestine, as this disease is very rare worldwide. The outcomes of the condition are thought to be well predicted by prenatal discoveries.