Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

When moyamoya vasculopathy results from an associated disease, this vasculopathy is then referred to as moyamoya syndrome. Moyamoya syndrome has been reported in association with sickle cell disease, neurofibromatosis type 1, Down syndrome, radiation exposure, and other predisposing factors. Other than sickle cell disease, rare hemoglobinopathies, such as hemoglobin Fairfax and hemoglobin Alesha, have been reported to occur with moyamoya. We present a case of moyamoya syndrome associated with an unstable hemoglobinopathy, hemoglobin Southampton (Casper). This is the first reported case of moyamoya associated with this hemoglobinopathy.
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PMID:Moyamoya syndrome associated with hemoglobin Southampton (Casper). 2534 87

Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. These include pentalogy of Cantrell, Klippel-Feil syndrome, cleidocranial dysplasia, Poland syndrome, osteopetrosis, neurofibromatosis type 1, Marfan syndrome, Gardner syndrome, systemic sclerosis, relapsing polychondritis, polymyositis/dermatomyositis, ankylosing spondylitis, hyperparathyroidism, rickets, sickle cell anemia, thalassemia, tuberculosis, septic arthritis of the sternoclavicular joint, elastofibroma dorsi, and sternal dehiscence.
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PMID:Imaging of Thoracic Wall Abnormalities. 3154 69