What presents with infant w/ hypoglycemia, failure to thrive, and hepatomegaly?	Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose–6–phosphatase deficiency, more severe)
What presents with infant w/ microcephaly, rocker–bottom feet,clenched hands, and structural heart defect?	Edwards syndrome (trisomy 18)
What presents with jaundice, palpable distended non–tender gallbladder?	Courvoisier sign (distal obstruction of biliary tree)
What presents with large rash w/ bull's–eye appearance?	erythemachronicum migrans from Ixodes tick bite (Lyme disease: Borrelia burgdorferi)
What presents with lucid interval after traumatic brain injury?	epiduralhematoma (middle meningealartery rupture)
What presents with male child, recurrent infections, no mature B cells?	Bruton disease (X–linked agammablobulinemia)
What presents with mucosal bleeding and prolonged bleeding time?	Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
What presents with muffled heart sounds, distended neck veins, hypotension?	Beck triad of cardiac tamponade
What presents with multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth?	Gardner syndrome (subtype of FAP)
What presents with myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance?	Pompe disease (lysosomal alpha–1,4–glucosidase deficiency)

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