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.
Solomon L, Jimenez RB, Reiner L: Spondylothoracic dysostosis: Report of two cases and review of the literature.