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What presents with short stature, increased incidence of tumors/leukemia, aplastic anemia?
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Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
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What presents with single palmar crease?
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Down syndrome
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What presents with situs inversus, chronic sinusitis, bronchiectasis, infertility?
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Kartagener syndrome (dynein arm defect affecting cilia)
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What presents with skin hyperpigmentation, hypotension, fatigue?
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Addison disease (primary adrenocortical insufficiency causes increased ACTH and alpha–MSH production)
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What presents with slow, progressive muscle weakness in boys?
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Becker muscular dystrophy (X–linked missense mutation in dystrophin; less severe than Duchenne)
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What presents with small, irregular red spots on buccal/lingual mucosa w/ blue–white centers?
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Koplik spots (measles; rubeola virus)
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What presents with smooth, flat, moist, painless white lesions on genitals?
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Condylomata lata (secondary syphilis)
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What presents with splinter hemorrhages in fingernails?
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Bacterial endocarditis
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What presents with "strawberry tongue"?
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Scarlet fever, Kawasaki disease, toxic shock syndrome
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What presents with streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema?
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Turner syndrome (45,XO)
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