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Rationales Included
,Anaphylaxis following blood IgA deficiency
transfusion
Anterior "drawer sign" ⊕ Anterior cruciate ligament injury
Arachnodactyly, lens dislocation, Marfan syndrome (fibrillin defect)
aortic dissection, hyperflexible joints
Athlete with polycythemia 2° to erythropoietin injection
Back pain, fever, night sweats Pott disease (vertebral TB)
Bilateral acoustic schwannomas Neurofibromatosis type 2
Bilateral hilar adenopathy, uveitis Sarcoidosis (noncaseating granulomas)
Black eschar on face of patient with Mucor or Rhizopus fungal infection
diabetic ketoacidosis
Blue sclera, brittle bones Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva Burton line (lead poisoning)
,Bone pain, bone enlargement, Paget disease of bone (osteoblastic and
arthritis osteoclastic activity)
Bounding pulses, diastolic heart Aortic regurgitation
murmur, head bobbing
"Butterfly" facial rash and Raynaud Systemic lupus erythematosus
phenomenon in a young female
Café-au-lait spots, Lisch nodules (iris Neurofibromatosis type I, pheochromocytoma,
hamartoma), cutaneous optic gliomas
neurofibromas,
pheochromocytomas, optic gliomas
Café-au-lait spots (unilateral), McCune-Albright syndrome (mosaic G-protein
polyostotic fibrous dysplasia, signaling mutation)
precocious puberty, multiple
endocrine abnormalities
Calf pseudohypertrophy Muscular dystrophy (most commonly Duchenne,
due to X-linked recessive frameshift mutation of
dystrophin gene)
Child with cervical Kawasaki disease (treat with IVIG and aspirin)
lymphadenopathy, desquamating
rash, coronary aneurysms, red
conjunctivae and tongue
, "Cherry-red spots" on macula Tay-Sachs (ganglioside accumulation) or Niemann-
Pick (sphingomyelin accumulation), central retinal
artery occlusion
Chest pain on exertion Angina (stable: with moderate exertion; unstable:
with minimal exertion or at rest)
Chest pain, pericardial Dressler syndrome (autoimmune-mediated post-MI
effusion/friction rub, persistent fever fibrinous pericarditis, 2-12 weeks after acute
following MI episode
Chest pain with ST depressions on Unstable angina (troponins −) or NSTEMI (troponins
EKG +)
Child uses arms to stand up from Gowers sign (Duchenne muscular dystrophy)
squat
Child with fever later develops red "Slapped cheeks" (erythema infectiosum/fifth
rash on face that spreads to body disease: parvovirus B19)
Chorea, dementia, caudate Huntington disease (autosomal dominant CAG
degeneration repeat expansion)
Chorioretinitis, hydrocephalus, Congenital toxoplasmosis
intracranial calcifications
Chronic exercise intolerance with McArdle disease (skeletal muscle glycogen
myalgia, fatigue, painful cramps, phosphorylase deficiency)
myoglobinuria