EP05.47: A case report of a Currarino syndrome in a fetus

The patient is a 23 weeks gestational age fetus. A suspicious sacral defect and possible low conus medullaris position seen on prenatal ultrasound. There were no obvious abnormalities in the intracranial structure. Genetic consultation showed a MNX1 mutation. MNX1 mutation is a rare, autosomal dominant hereditary disease. MNX1 gene is the pathogenic gene of Currarino syndrome, which includes triad: sacrococcygeal defect, sacral anterior mass, and anorectal malformation. The main differential diagnosis is Caudal regression syndrome, which there is abnormal fetal development of the lower spine and malformation of the lower extremities. A related condition is sirenomelia sequence and is characterised by fusion of the legs a variable combination of the other abnormalities. A cross-legged sit fetus associated with severe spinal cord failure may be detected on prenatal ultrasound. Sacral anterior mass and anorectal malformation are mostly manifested in childhood and even adulthood. Therefore, sacrococcygeal defect and low conus medullaris position are the vital clues to the identity of CS. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.