A rare case of Jarcho-Levin syndrome in the emergency room

Jarcho-Levin syndrome is a rare genetic disorder in which abnormal costovertebral segmentation is seen and may be accompanied by neural tube defects and some anomalies involving the urinary and renal systems. In most cases of Jarcho-Levin syndrome, breathing difficulties occur due to rib deformity. Patients die due to respiratory insufficiency. In this case report, a 39-year-old patient presented to our emergency department for the first time at eight weeks of gestation with complaints of spotting. Due to its rarity, a case of a newborn diagnosed with spondylothoracic type Jarcho-Levin syndrome, accompanied by meningomyelocele and hydrocephalus, is presented.