Published In / Presented At
American Medical Women’s Association Annual Meeting
Obstetrics and Gynecology
Short Limbs, Earlier Diagnosis: Antenatal Presentation of Cornelia de Lange Syndrome.
30-year old female presented at 35 weeks gestation to Maternal-Fetal Medicine with intrauterine growth restriction (IUGR) • 9 weeks: Demise of two fetuses in the triplet trichorionic gestation • 11 weeks: Growth restriction of the remaining triplet noted.
Negative genetic testing does not exclude the diagnosis of CdLS, which should remain in the differential diagnosis with antenatal findings of frontal bossing, micromelia, and first trimester IUGR.
Schoenfeld, Ellen E. and Plenty, Nicole, "Short Limbs, Earlier Diagnosis: Antenatal Presentation of Cornelia de Lange Syndrome" (2018). Student Publications and Research. 8.