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Updated: Jul 1, 2025
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Severe skeletal dysplasia caused by a novel FLNB gene mutation
Ichchha Madan1, Frank Jackson2, Simran Sahni3
1Gynecology and Obstetrics, Johns Hopkins University, Baltimore, Maryland, USA.
None:
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). The patient underwent termination of pregnancy. The care of this patient was expedited by first-trimester sonographic evidence of limb abnormalities enabling timely clinical management.
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