Throughout most of the 20th century, the term Jarcho-Levin syndrome (JLS) was used to describe two disorders affecting the axial skeleton which are now recognized as distinct entities , spondylocostal dysostosis (SCD) and spondylothoracic dysplasia (STD).
Cornier et al., "Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome)," Pediatric Radiology, vol.
Romeu, "Natural history of thoracic insufficiency syndrome: a spondylothoracic dysplasia perspective," Journal of Bone and Joint Surgery: American Volume, vol.
Connor, "Spondylothoracic and spondylocostal dysostosis.
A two and one-half year-old female with the spondylothoracic dysostosis form of MVSD is presented.
The second form, called spondylothoracic dysostosis, also has an autosomal recessive pattern of inheritance and is characterized radiographically by fusion and/or absence of ribs and multiple segmentation defects involving all vertebral levels.
Spine and rib abnormalities are similar to but usually milder than those present in spondylothoracic dysostosis.
We feel that the clinical and radiographic abnormalities in our patient fit best a diagnosis of spondylothoracic dysostosis.
(2.) Solomon L, Jimenez RB, Reiner L: Spondylothoracic dysostosis: Report of two cases and review of the literature.