Raine Syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease

Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. The study reports a consanguineous family with 3 affected pregnancies. In the first two, exophthalmos and bone abnormalities were noted, ending in one intra‐uterine demise and one neonatal death, without identifying any genetic disorder. During the couple’s most recent pregnancy, fetal anomaly sonogram and fetal CT scan revealed microcephaly, intracranial calcifications, exophthalmos, hypertelorism, depressed nasal bridge, midface hypoplasia and thoracic hypoplasia. Delivery occurred at 26 weeks of gestation after rupture of membranes followed by neonatal death due to respiratory failure. A review of the distinctive features of Raine syndrome, the contribution of different prenatal imaging modalities (Ultrasound, Computed tomography and Magnetic Resonance Imaging) in making the diagnosis and the molecular characterization of this disorder is provided.