Prenatal diagnosis of spondylothoracic dysplasia (Jarcho-Levin syndrome) by ultrasound / 대한산부인과학회잡지

ABSTRACT

The Jarcho-Levin syndrome (spondylothoracic dysplasia) is a rare autosomal recessive disorder characterized by a short neck, short trunk and a constricted thorax due to multiple rib and vertebral defects. The small size of thorax in newborns frequently leads to respiratory insufficiency and death in neonates or infancy. We reports the prenatal diagnosis using ultrasonography of a fetus affected with spondylothoracic dysplasia, or Jarcho-Levin syndrome, in patient without a positive family history for this condition.