Severe skeletal dysplasia caused by a novel FLNB gene mutation.

Abstract excerpt

A late adolescent primigravida was found to have a fetus with a cystic hygroma and significant shortening of the limbs on first-trimester ultrasound. She underwent chorionic villus sampling with normal microarray result. In the early second trimester, the fetus was found to have the absence of all four limbs and a thorough skeletal dysplasia workup was pursued, identifying a variant in the FLNB gene (c.62C>G)....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Fetal Diseases
• Share to Filamins