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24 Cards in this Set
- Front
- Back
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Infant with hypoglycemia, failure to thrive, and
hepatomegaly |
Cori disease (debranching enzyme deficiency) or Von Gierke
disease (glucose-6-phosphatase deficiency, more severe) |
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Infant with microcephaly, rocker-bottom feet, clenched
hands, and structural heart defect |
Edwards syndrome (trisomy 18)
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Jaundice, palpable distended non-tender gallbladder
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Courvoisier sign (distal obstruction of biliary tree)
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Large rash with bull’s-eye appearance
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Erythema chronicum migrans from Ixodes tick bite (Lyme
disease: Borrelia) |
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Lucid interval after traumatic brain injury
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Epidural hematoma (middle meningeal artery
rupture) |
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Male child, recurrent infections, no mature B cells
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Bruton disease (X-linked agammaglobulinemia)
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Mucosal bleeding and prolonged bleeding time
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Glanzmann thrombasthenia (defect in platelet aggregation
due to lack of GpIIb/IIIa) |
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Muffled heart sounds, distended neck veins, hypotension
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Beck triad of cardiac tamponade
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Multiple colon polyps, osteomas/soft tissue tumors, impacted/
supernumerary teeth |
Gardner syndrome (subtype of FAP)
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Myopathy (infantile hypertrophic cardiomyopathy), exercise
intolerance |
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
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Neonate with arm paralysis following difficult birth
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Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus
injury: “waiter’s tip”) |
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No lactation postpartum, absent menstruation, cold
intolerance |
Sheehan syndrome (pituitary infarction)
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Nystagmus, intention tremor, scanning speech, bilateral
internuclear ophthalmoplegia |
Multiple sclerosis
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Oscillating slow/fast breathing
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Cheyne-Stokes respirations (central apnea in CHF or
intracranial pressure) |
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Painful blue fingers/toes, hemolytic anemia
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Cold agglutinin disease (autoimmune hemolytic
anemia caused by Mycoplasma pneumoniae, infectious mononucleosis) |
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Painful, pale, cold fingers/toes
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Raynaud phenomenon (vasospasm in extremities)
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Painful, raised red lesions on pad of fingers/toes
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Osler nodes (infective endocarditis, immune complex
deposition) |
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Painless erythematous lesions on palms and soles
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Janeway lesions (infective endocarditis, septic emboli/
microabscesses) |
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Painless jaundice
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Cancer of the pancreatic head obstructing bile duct
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Palpable purpura on buttocks/legs, joint pain, abdominal pain
(child), hematuria |
Henoch-Schönlein purpura (IgA vasculitis affecting skin and
kidneys) |
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Pancreatic, pituitary, parathyroid tumors
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MEN 1 (autosomal dominant)
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Periorbital and/or peripheral edema, proteinuria,
hypoalbuminemia, hypercholesterolemia |
Nephrotic syndrome
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Pink complexion, dyspnea, hyperventilation
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“Pink puffer” (emphysema: centriacinar [smoking], panacinar
[α1-antitrypsin deficiency]) |
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Polyuria, renal tubular acidosis type II, growth failure,
electrolyte imbalances, hypophosphatemic rickets |
Fanconi syndrome (proximal tubular reabsorption defect)
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