Prenatal Diagnosis of Roberts-SC Phacomelia Syndrome: A Rare Case Report

Roberts syndrome/Roberts-sc Phacomelia syndrome is a rare disease, with multiple limb and skeletal abnormalities (called pseudothalidomide disease). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in the prenatal routine anomaly scan, when a 24 years patient came for routine antenatal checkup without prior follow-up. The pregnancy was not followed due to socioeconomic and family situation and no prior ultrasound was performed. The ultrasound evaluation showed: hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, abnormal and lower implanted ears, oligodactyly of right hand, upper limbs phocomelia (severe on the right side), asymmetrical femur growth and intrauterine growth restriction. Roberts syndrome is a rare genetic disease with autosomal recessive transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined anomaly scan at 24weeks. We believe this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission. The baby was terminated later on as soon as the suspicion of Roberts-SC syndrome was made. The overall radiological features were suggestive of Roberts syndrome.