EP06.70: Ellis Van Creveld syndrome: a rare case report

Ellis Van Creveld syndrome is a rare genetic disorder with approximately 150 reported cases worldwide, inherited as an autosomal recessive trait. It is caused by mutations in the EVC and EVC2 genes on chromosome 4p16. Common features include narrow thorax, limb shortening, hexadactyly, and cardiac defects. We present a case detected by ultrasound in early pregnancy. Mrs. A.R., aged 38, had a consanguineous marriage and a previous child with Ellis Van Creveld syndrome. Ultrasound in the first trimester revealed signs suggestive of recurrence, including cystic hygroma, short curved limbs, polydactyly, and syndactyly. The pregnancy was terminated. Macroscopic examination revealed features consistent with Ellis Van Creveld syndrome, including cystic hygroma, narrow thorax, tetramicromelia, and limb anomalies. The fetus had a cardiac septation anomaly. Histological examination showed delayed placental villous maturation, but normal bone and visceral histology. Neurological examination was unremarkable. Although some features resembled Jeune syndrome, the presence of gingival frenulums and ectodermal abnormalities suggested Ellis Van Creveld syndrome, consistent with the sibling's phenotype. Early ultrasound detection of morphological abnormalities is essential. Further research is needed to understand the genetic basis of Ellis Van Creveld syndrome fully. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.