Korean J Obstet Gynecol.  2002 Nov;45(11):2075-2080.

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

Affiliations
  • 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.

Keyword

Jarcho-Levin syndrome; spondylothoracic dysplasia; prenatal diagnosis; Ultrasound

MeSH Terms

Fetus
Humans
Infant, Newborn
Neck
Prenatal Diagnosis*
Respiratory Insufficiency
Ribs
Thorax
Ultrasonography*
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