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Background <p>Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by chondrodysplasia, postaxial polydactyly, congenital heart defects, and dental abnormalities. Reports of pregnancy in women with EVC syndrome are exceedingly uncommon.</p> Case presentation <p>A 27-year-old woman with genetically confirmed EVC syndrome experienced an unplanned pregnancy complicated by fetal growth restriction and elevated umbilical artery Doppler indices. Through multidisciplinary team collaboration, she underwent cesarean delivery at 28 weeks, delivering a live male infant weighing 800&#xa0;g. The mother had a favorable postpartum recovery. The neonate was admitted to the neonatal intensive care unit and was subsequently discharged in stable condition after 80 days of care.</p> Conclusions <p>Pregnancy in women with EVC syndrome is rare and high-risk. Multidisciplinary management involving obstetrics, fetal medicine, critical care, neonatology, anesthesiology, and other specialties is essential to optimize maternal and neonatal outcomes.</p>

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Cesarean delivery in a pregnant woman with Ellis-van Creveld syndrome: a case report

  • 期刊论文

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  • 发表日期：

    2026年4月17日

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  • Yuwen Yu,
  • Wenming Zhuang

摘要

Background

Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by chondrodysplasia, postaxial polydactyly, congenital heart defects, and dental abnormalities. Reports of pregnancy in women with EVC syndrome are exceedingly uncommon.

Case presentation

A 27-year-old woman with genetically confirmed EVC syndrome experienced an unplanned pregnancy complicated by fetal growth restriction and elevated umbilical artery Doppler indices. Through multidisciplinary team collaboration, she underwent cesarean delivery at 28 weeks, delivering a live male infant weighing 800 g. The mother had a favorable postpartum recovery. The neonate was admitted to the neonatal intensive care unit and was subsequently discharged in stable condition after 80 days of care.

Conclusions

Pregnancy in women with EVC syndrome is rare and high-risk. Multidisciplinary management involving obstetrics, fetal medicine, critical care, neonatology, anesthesiology, and other specialties is essential to optimize maternal and neonatal outcomes.