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Journal of Ultrasound in Medicine, Vol 8, Issue 1 1-5, Copyright © 1989 by American Institute of Ultrasound in Medicine
Spondylothoracic dysplasia. Clinical and sonographic diagnosis
F. Marks, M. Hernanz-Schulman, S. Horii, V. C. Greenland, I. Lustig, J. Snyder, B. K. Young, M. A. Greco, B. Subramanyam and N. B. Genieser
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. |
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