Document Type

Poster

Publication Date

3-20-2018

Published In / Presented At

American Medical Women’s Association Annual Meeting

Disciplines

Obstetrics and Gynecology

Abstract

Case Study:

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.

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