Expanding the Prenatal Phenotypic Spectrum of TRPV6 Variants With Ocular Anomalies.

What is known? ◦. Genetic disorders of calcium/phosphate metabolism can cause prenatal bone disease, often leading to postnatal respiratory distress and with patients exhibiting bone improvement with calcium supplementation. What's new? ◦. We broaden the TRPV6 variant fetal phenotype with bilateral ocular involvement, mirroring postnatal hypocalcemia features. ◦. Prenatal bone anomalies in constitutional bone diseases may overlap with calcium/phosphate disorders; thus, gene screening for these disorders should be performed in all unexplained fetal skeletal dysplasia cases.