First-trimester prenatal diagnosis of Ellis-van Creveld syndrome

Taiwan J Obstet Gynecol. 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001.


Objective: To present the perinatal findings and first-trimester molecular and transabdominal ultrasound diagnosis of a fetus with Ellis-van Creveld (EvC) syndrome.

Case report: A 35-year-old woman was referred for genetic counseling at 13 weeks of gestation because of a family history of skeletal dysplasia. She had experienced one spontaneous abortion, and delivered one male fetus and one female fetus with EvC syndrome. During this pregnancy, a prenatal transabdominal ultrasound at 13(+4) weeks of gestation revealed a nuchal translucency (NT) thickness of 2.0 mm, an endocardial cushion defect, postaxial polydactyly of bilateral hands, and mesomelic dysplasia of the long bones. Amniocentesis was performed at 13(+5) weeks of gestation. Results of a cytogenetic analysis revealed a karyotype of 46,XX and that of a molecular analysis revealed compound heterozygous mutations of c.1195C>T and c.871-2_894del26 in the EVC2 gene. Prenatal ultrasound at 16 weeks of gestation showed a fetus with short limbs, an endocardial cushion defect, and postaxial polydactyly of bilateral hands. The parents decided to terminate the pregnancy, and a 116-g female fetus was delivered with a narrow thorax, shortening limbs, and postaxial polydactyly of the hands.

Conclusion: Prenatal diagnosis of an endocardial cushion defect with postaxial polydactyly should include a differential diagnosis of EvC syndrome in addition to short rib-polydactyly syndrome, Bardet-Biedl syndrome, orofaciodigital syndrome, Smith-Lemli-Opitz syndrome, and hydrolethalus syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Eugenic
  • Adult
  • Amniocentesis
  • Ellis-Van Creveld Syndrome / diagnostic imaging*
  • Ellis-Van Creveld Syndrome / genetics*
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetal Diseases / genetics*
  • Humans
  • Intercellular Signaling Peptides and Proteins
  • Karyotype
  • Nuchal Translucency Measurement
  • Pregnancy
  • Pregnancy Trimester, First
  • Proteins / genetics*


  • EVC2 protein, human
  • Intercellular Signaling Peptides and Proteins
  • Proteins