1. Some cases resemble Jarcho-Levin syndrome or spondylocostal dysostosis . 2. When synostosis is abnormal it is a type of dysostosis . 3. Mutations in the MESP2 gene cause autosomal recessive Spondylocostal dysostosis type 2. 4. Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. 5. A defect associated with Lfng mutations is spondylocostal dysostosis . 6. Respiratory problems are also common in spondylocostal dysostosis because of the shortened trunk. 7. The differential diagnosis includes Treacher Collins syndrome, Nager acrofacial dysostosis ( preaxial cranial dysostosis ). 8. The differential diagnosis includes Treacher Collins syndrome, Nager acrofacial dysostosis ( preaxial cranial dysostosis ). 9. First called " craniofacial dysostosis ", the disorder was characterized by a number of clinical features. 10. Marie is also credited as the first to describe pulmonary hypertrophic osteoarthropathy, cleidocranial dysostosis and rhizomelic spondylosis.
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