Spondylothoracic dysplasia. Clinical and sonographic diagnosis.

Abstract

Spondylothoracic dysplasia, also known as short-trunk dwarfism or Jarcho-Levin syndrome, is a fatal autosomal recessive disorder characterized by vertebral and spinal defects with a short thorax. Until recently, in utero diagnosis could only be made radiographically. Sonographic criteria for antenatal diagnosis are discussed in conjunction with a review of the literature.