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Walk the Even Hospital Database by book and chapter — the raw source passages that ground Ask, DDx, and the rest.
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Rheumatology Genetic Diseases of Connective Tissue STUDY T&5LX: Most Common Findings and General Management of Genetic Diseases of Connective Tissue ClinicalFindings Ehlers-DanlosSyndrome Marfan Syndrome Osteogenesis lmperfecta Musculoskeletal Joint laxity, instability, dislocations; Hypermobility; tall stature; Bone {ractures; short stature musculoskeletal pain; early OA dolichostenomeliau; arachnodactyly; pectus excavatum/carinatum; scoliosis Skin Easy bruising; mild laxity Hyperextensibility Cardiovascular Mitral/tricuspid valve prolapse; Aortic aneurysm/dissection; MVP aortic root dilation (rare); arterial rupture (rare) Other Myopia (most common feature); Dentinogenesis imperfectab; ectopia lentis; high arched palate; hearing loss; blue sclerae pneumothorax; blue sclerae Management Joint protection; echo/vascular Annual ophthalmic examination; Bisphosphonates; audiology monitoring; preconception periodic aortic arch imaging; assessments; joint and bone counseling p-blockers; joint protection; protection; dental evaluations pregnancy counseling/monitori n g "Dolichostenomelia describes when the extremities are disproportionately long for the size of the trunk. bDentinogenesis imperfecta is defined as discolored (blue/gray or yellow/brown), translucent, and weak teeth prone to breakage.
Genetic Diseases of Connective Tissue STUDY T&5LX: Most Common Findings and General Management of Genetic Diseases of Connective Tissue ClinicalFindings Ehlers-DanlosSyndrome Marfan Syndrome Osteogenesis lmperfecta Musculoskeletal Joint laxity, instability, dislocations; Hypermobility; tall stature; Bone {ractures; short stature musculoskeletal pain; early OA dolichostenomeliau; arachnodactyly; pectus excavatum/carinatum; scoliosis Skin Easy bruising; mild laxity Hyperextensibility Cardiovascular Mitral/tricuspid valve prolapse; Aortic aneurysm/dissection; MVP aortic root dilation (rare); arterial rupture (rare) Other Myopia (most common feature); Dentinogenesis imperfectab; ectopia lentis; high arched palate; hearing loss; blue sclerae pneumothorax; blue sclerae Management Joint protection; echo/vascular Annual ophthalmic examination; Bisphosphonates; audiology monitoring; preconception periodic aortic arch imaging; assessments; joint and bone counseling p-blockers; joint protection; protection; dental evaluations pregnancy counseling/monitori n g "Dolichostenomelia describes when the extremities are disproportionately long for the size of the trunk. bDentinogenesis imperfecta is defined as discolored (blue/gray or yellow/brown), translucent, and weak teeth prone to breakage. 392