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Spondylospinal thoracic dysostosis
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arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth. This condition is believed to be inherited in an autosomal recessive manner. It does not appear to be compatible with life.Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized by a short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe
Last updated: 4/15/2010
- Johnson VP, Keppen LD, Carpenter MS, Randall BB, Newby PE. Am J Med Genet. 1997; http://www.ncbi.nlm.nih.gov/pubmed/9066887. Accessed 1/27/2010.
- Spondylospinal Thoracic Dysostosis. Online Mendelian Inheritance in Man (OMIM). 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601809. Accessed 1/27/2010.
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- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Spondylospinal thoracic dysostosis. Click on the link to go to OMIM and review these resources.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Spondylospinal thoracic dysostosis. Click on the link to view a sample search on this topic.