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arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan's syndrome (fibrillin defect
bone pain, bone enlargement, arthritis
Paget's disease of bone (increased osteoblastic and osteoclastic activity)
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+ bilateral acoustic neuromas)
cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty
McCune-Albright syndrome (mosaic G-protein signaling mutation)
muscular dystrophy (most commonly Duchennes): X-linked recessive deletion of dystrophin gene
"Cherry red spot" on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler's syndrome (autoimmune mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
child with fever develops red rash on face that spreads to body
"slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)
chorea, dementia, caudate degeneration
Huntington's disease (autosomal dominant CAG repeat expansion)
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle's disease (muscle glycogen phosphorylase deficiency)
conjugate lateral gaze palsy, horizontal diplopia
internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis] unilateral [stroke])
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