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.

• Authors: F Marks, M Hernanz-Schulman, S Horii, V C Greenland, I Lustig, J Snyder, B K Young, M A Greco, B Subramanyam, N B Genieser
• Journal: Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine (J Ultrasound Med) Vol. 8 Issue 1 Pg. 1-5 (Jan 1989) ISSN: 0278-4297 [Print] England
• PMID: 2644437 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis)
• Adult
• Female
• Fetal Diseases (diagnosis)
• Humans
• Pregnancy
• Prenatal Diagnosis
• Spine (abnormalities)
• Thorax (abnormalities)
• Ultrasonography