母子保健クリニック

概要

Robinow Syndrome as a Prenatal 5D Ultrasound Diagnosis: A Case Report in Mansoura Fetal Medicine Unit

Sara A Mohamed, Ahmed Elzayadi, Mohamed Eltatongy, Hend Shalaby

Robinow syndrome, named after Doctor Meinhard Robinow who first reported a new type of dwarfism in 1969. Rarely, Robinow syndrome aka fetal face syndrome is genetically inherited heterogeneous disorder characterized mainly by limb shortening (mesomelia), dysmorphic facial features, and abnormal genitalia (ambiguous). This report presents depicts the antenatal ultrasound findings in a case of autosomal dominant Robinow syndrome diagnosed at 22 weeks’ gestation, for a Robinow pregnant female with history of two positive siblings. This case study demonstrates the role of the new 5D technology of ultrasound in the prenatal diagnosis correlating to postnatal findings, narrowing down the differential diagnosis.