Severe Pulmonary Hypertension in an Infant with Ellis Van Creveld Syndrome: A Rare Case Report

Abstract

Ellis–van Creveld syndrome is a rare skeletal ciliopathy characterised by disproportionate short stature, postaxial polydactyly, ectodermal abnormalities, and congenital cardiac defects. This case report describes an infant with clinical features consistent with Ellis–van Creveld syndrome and associated pulmonary hypertension. A 28-year-old multiparous woman’s second-trimester anomaly scan showed shortening of the long bones, polydactyly, thoracic narrowing, and congenital heart disease. The pregnancy was continued after counselling and was managed as high risk with close antenatal surveillance. Foetal and postnatal echocardiographic assessment showed situs solitus, levocardia, a common atrium, a small inlet ventricular septal defect with bidirectional shunting, and elevated pulmonary artery pressures. Delivery was by elective caesarean section at 38 weeks of gestation. The live neonate had disproportionate short-limb dwarfism, a markedly narrow thoracic cage, bilateral postaxial polydactyly of the hands, hypoplastic and dystrophic nails, sparse scalp hair, a depressed nasal bridge, apparent ocular prominence, and mild facial dysmorphism. The feet did not show polydactyly. The coexistence of skeletal dysplasia, ectodermal abnormalities, bilateral postaxial hand polydactyly, and congenital cardiac disease supported the clinical diagnosis of Ellis–van Creveld syndrome. This case illustrates the prenatal and postnatal clinical features of Ellis–van Creveld syndrome associated with severe pulmonary hypertension. The case further highlights the value of prenatal ultrasound, foetal echocardiography, postnatal clinical assessment, and multidisciplinary planning in suspected skeletal ciliopathies. Pulmonary hypertension may increase clinical risk in this setting and requires prompt cardiac evaluation and follow-up. Early diagnosis and counselling are important for pregnancy management, neonatal care planning, and recurrence-risk assessment in future pregnancies.