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Korean Journal of Obstetrics & Gynecology 2002;45(11):2075-2080.
Published online November 1, 2002.
Prenatal diagnosis of spondylothoracic dysplasia (Jarcho-Levin syndrome) by ultrasound.
Won Jin Lee, Byung Kwan Lee, Yoon Seong Cho, Mi Hye Park, Rho Jeong Hoon, Kwoan Young Oh, Yoon Seok Yang, In Taek Hwang, Joon Suk Park
1Department of Obstetrics and Gynecology, Eul ji university hospital, Daejeon, Korea.
2Department of Obstetrics and Gynecology Ewha university, medical college, Daejeon, Korea.
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.
Key Words: Jarcho-Levin syndrome, spondylothoracic dysplasia, prenatal diagnosis, Ultrasound


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