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