Sonographic Criteria for Diagnosing Jarcho-Levin Syndrome

Abstract

This is a case study of Jarcho-Levin syndrome, which is a rare genetic disorder described as a malformation of bones in the spinal column and the ribs. This disorder can be an autosomal recessive or dominant trait. Those affected by this disorder have respiratory insufficiency and potentially other abnormalities. Recurrent respiratory infections are expected. In milder cases, surgery is a possibility, but in severe cases, prognosis is poor. OB sonography can aid in diagnosis of Jarcho-Levin syndrome in patients with no known family history of the disease, but it is particularly helpful in known at-risk cases.