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Rib fusion
- ... not occur properly, resulting in the malformation and fusion of the bones of the spine and ribs seen in spondylocostal dysostosis.Mutations in the identified ...
- ... not occur properly, which results in malformation and fusion of the bones of the spine and ribs seen in spondylothoracic dysostosis. MESP2 This condition is ...
- ... skeletal abnormalities occur, including short stature and premature fusion of certain skull bones (craniosynostosis) that affects the shape of the head and face. Affected individuals may also have a small rib cage, which sometimes causes breathing problems in infancy, ...
- ... the spine (vertebrae) fuse together. This progressive bony fusion is called ... the spine and ribs, restricting movement of the chest and making it ...
- ... Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. Hum Mutat. 2017 May;38(5):540- ...
- ... usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma ... of the FLI1 gene, creating the EWSR1/FLI1 fusion gene. This mutation is acquired during a person' ...
- ... brachydactyly). Some people with this condition have short rib bones and a narrow rib cage, which can cause breathing problems, especially in ...
- ... prominent forehead; and skeletal abnormalities involving the spine, ribs, or skull. 9q22.3 microdeletion appears to be ...
- ... wide. In addition, affected individuals may have broad ribs, abnormal collarbones (clavicles), inward- and upward-turning feet ( ... Patel MS. Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. Am J Med Genet ...