Archives of Gynecology and Obstetrics

, Volume 283, Issue 1, pp 59–63

A case of third trimester diagnosis of Cornelia de Lange syndrome

Authors

  • V. Kanellopoulos
    • Department of Fetal MedicineIASO Maternity Hospital
    • Department of Fetal MedicineIASO Maternity Hospital
  • C. Tzanatou
    • Department of Fetal MedicineIASO Maternity Hospital
  • E. Papadakis
    • Department of Fetal MedicineIASO Maternity Hospital
  • K. Tassis
    • Department of Fetal MedicineIASO Maternity Hospital
Materno-fetal Medicine

DOI: 10.1007/s00404-009-1279-6

Cite this article as:
Kanellopoulos, V., Iavazzo, C., Tzanatou, C. et al. Arch Gynecol Obstet (2011) 283: 59. doi:10.1007/s00404-009-1279-6

Abstract

Aim

The objective is to present a rare case of late diagnosis of Cornelia de Lange syndrome.

Case

A 27-year-old pregnant woman (gravida 1, para 0) was referred to our Fetal Medicine Department during her 33rd week of gestation due to intrauterine growth restriction (IUGR) and polyhydramnios. The ultrasound scanning confirmed the findings and furthermore, the 3-D examination revealed minor facial dysmorphisms, limb abnormalities, and hypertrichosis. The fetus died 1 week post-diagnosis due to unknown reason and the woman underwent an induction of labor. Postmortem examination confirmed the diagnosis of Cornelia de Lange syndrome.

Conclusion

The prognosis of the syndrome is severe. Termination of pregnancy before viability is proposed. Genetic counseling is necessary.

Keywords

Facial anomalies Limb anomalies Hypertrichosis Cornelia de Lange syndrome

Copyright information

© Springer-Verlag 2009