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Thoracic hypoplasia
- ... of other features can occur in cerebro-facio-thoracic dysplasia, such as abnormalities involving the eyes, skin, or hair. Heart defects, ... Affected individuals may also have bone or joint abnormalities in other parts of the body. Cerebro-facio-thoracic dysplasia is a rare disorder. Its prevalence is ...
- ... can improve with age.Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as ...
- ... to account for at least 20 percent of thoracic aortic aneurysms and dissections. In the remainder of cases, the abnormalities are thought to be caused by factors that ...
- ... National Organization for Rare Disorders (NORD) SHORT-RIB THORACIC DYSPLASIA 9 ... of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. Am J Med Genet ...
- ... facial dysmorphism Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MINDS syndrome SKS Genetic Testing Registry: Macrocephaly- ...
- ... 2013 Feb 19. Citation on PubMed Fokin AA. Thoracic defects: cleft sternum and Poland syndrome. Thorac Surg ...
- ... PubMed or Free article on PubMed Central American Thoracic Society. Idiopathic pulmonary fibrosis: diagnosis and treatment. International consensus statement. American Thoracic Society (ATS), and the European Respiratory Society (ERS). ...
- ... 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. Am J Med ...
- ... and pathological features of ABCA3 mutations in children. Thorax. 2008 Apr;63(4):366-73. doi: 10. ...