Term
| Infant with hypoglycemia, failure to thrive, and hepatosplenomegaly |
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Definition
| Cori's disease (debranching enzyme) [and von Gierke's] |
|
|
Term
| Infant with microcephaly, rocker-bottom feet, and structural heart defect |
|
Definition
| Edwards' syndrome (trisomy 18) |
|
|
Term
| Jaundice, RUQ pain, fever |
|
Definition
| Charcot's triad 2 (ascending cholangitis) |
|
|
Term
| Keratin pearls on a skin lesion |
|
Definition
|
|
Term
| Large rash with bull's eye appearance |
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Definition
| Erythema chronicum migrans from tick bite (Lyme disease : Borrelia) |
|
|
Term
| Lucid interval after traumatic brain injury |
|
Definition
|
|
Term
| Male child, recurrent infections, no mature B cells |
|
Definition
| Bruton's disease (X-linked agammaglubulinemia) |
|
|
Term
| Mucosal bleeding and prolonged bleeding time |
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Definition
| Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa) |
|
|
Term
| Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth |
|
Definition
Gardner's syndrome (genetic disorder, predisposes to colon cancer)
[A gardener grows vegetables like Gardner's grows tissue] |
|
|
Term
| Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis |
|
Definition
| Wegener's [if upper airway] and Goodpasture's syndromes (hemoptysis and glomerular disease) |
|
|
Term
| Neonate with arm paralysis following difficult birth |
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Definition
| Erb-Duchenne palsy (superior turnk [C5-C6] brachial plexus injury: "waiter's tip") |
|
|
Term
| No lactation postpartum, absent menstruation, cold intolerance |
|
Definition
| Sheehan's syndrome (pituitary infarction) |
|
|
Term
| Nystagmus, intetion tremor, scanning speech |
|
Definition
| Charcot's triad 1 (multiple sclerosis) |
|
|
Term
| Oscillating slow/fast breathing |
|
Definition
| Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure) |
|
|
Term
| Painful blue fingers/toes, hemolyic anemia |
|
Definition
| Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis) |
|
|
Term
| Painful, pale, cold fingers/toes |
|
Definition
| Raynaud's syndrome (vasospasm in extremities) |
|
|
Term
| Painful, raised red lesions on palms and soles |
|
Definition
| Osler's node (infective endocarditis) |
|
|
Term
|
Definition
| Cancer of the pancreatic head obstructing bile dut |
|
|
Term
| Palpable purpura, joint pain, abdominal pain (child) [hematuria] |
|
Definition
| Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys) |
|
|
Term
| Pancreatic, pituitary, parathyroid tumors |
|
Definition
| Wermer's syndrome (MEN 1) |
|
|
Term
| Pink complex, dyspnea, hyperventilation |
|
Definition
| "Pink puffer" (emphysema: centroacinar [smoking] panacinar [a1-antitrypsin deficiency]) |
|
|
Term
| Polyostotic fibrous dysplasia, precocious puberty, cafe-au-lait spots, short stature in a young girl |
|
Definition
| McCune-Albright syndrome (mosaic G-protein signaling mutation) |
|
|
Term
| Polyuria, acidosis, growth failure, electrolyte imbalance |
|
Definition
| Fanconi's syndrome (proximal tubule reabsorption defect) |
|
|
Term
| Positive anterior "drawer" sign [tibia displaced anterior to fibula] |
|
Definition
| ANterior cruciate ligament (ACL) injury |
|
|
Term
| Ptosis, miosis, anhidrosis |
|
Definition
| Horner's syndrome (sympathetic chain lesion) |
|
|
Term
| Pupil accomodates, but does not react |
|
Definition
|
|
Term
| Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection) |
|
Definition
| Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy) |
|
|
Term
|
Definition
| Secondary syphilis, Rocky Mountain spotted fever [Coxsackie A virus] |
|
|
Term
| Recurrent colds, unusual eczema [truncal], high serum IgE |
|
Definition
| Job's syndrome (hyper-IgE syndrome: neutrophil chemotaxis abnormality) |
|
|
Term
| Red "currant jelly" sputum |
|
Definition
|
|
Term
| Red, itchy, swollen rash of nipple/areola |
|
Definition
| Paget's disease of the breast (represents underlying neoplasm) |
|
|
Term
|
Definition
| Paroxysmal nocturnal hemoglobinuria [complement mediated hemolyis; lack of CD-59/DAF] |
|
|
Term
| Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma |
|
Definition
| von Hippel-Lindau disease (dominant tumor suppressor gene mutation) |
|
|
Term
| Resting tremor, rigitidy, akinesia, postural instability |
|
Definition
| Parkinson's disease (nigrostriatal dopamine depletion) |
|
|
Term
| Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance |
|
Definition
| Pompe's disease (lysosomal glucosidase deficiency) |
|
|
Term
| Retinal hemorrhages with pale centers |
|
Definition
| Roth's spots (bacterial endocarditis) |
|
|
Term
| Severe RLQ with rebound tenderness |
|
Definition
| McBurney's sign (appendicitis) |
|
|
Term
| Short stature, increased incidence of tumors/leukemia, aplastic anemia |
|
Definition
| Fanconi's anemia (genetically inherited; often progresses to AML) |
|
|
Term
|
Definition
| Simian crease (Down syndrome) |
|
|
Term
| Situs inversus, chronic sinusitis, bronchiectasis |
|
Definition
| Kartagener's syndrome (dynein defect affecting cilia) |
|
|
Term
|
Definition
| Addison's disease (primary adrenocortical insufficiency of autoimmune or infectious etiology) |
|
|
Term
| Slow, progressive muscle weakness in boys |
|
Definition
| Becker's muscular dystrophy (X-linked, defective dystrophin; less severe than Duchenne's) |
|
|
Term
| Small, irregular red spots on buccal/lingual mucosa with blue-white centers |
|
Definition
|
|
Term
| Small, nontender, erythematous lesions on palms/soles |
|
Definition
| Janeway lesions (infective endocarditis) |
|
|
Term
| Smooth, flat, moist white lesions on genitals |
|
Definition
| Condylomata lata (secondary syphilis) |
|
|
Term
| Splinter hemorrhages in fingernails |
|
Definition
|
|
Term
|
Definition
| Scarlet fever, Kawasaki disease, toxic shock syndrome |
|
|
Term
| Streak ovaries, congenital heart disease, horseshoe kidney |
|
Definition
| Turner's syndrome (XO, short stature, webbed neck, lymphedema) |
|
|
Term
| Sudden swollen/painful big toe joint, tophi |
|
Definition
| Gout/podagra (hyperuricemia) |
|
|
Term
| Swollen gums, mucous bleeding, poor wound healing, spots on skin |
|
Definition
| Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis) |
|
|
Term
| Swollen, hard, painful finger joints |
|
Definition
| Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes]) |
|
|
Term
| Systolic ejection murmur (crescendo-decrescendo) |
|
Definition
|
|
Term
| Thyroid, parathyroid, adrenal tumors |
|
Definition
| Sipple's syndrome (MEN 2A) |
|
|
Term
| Ulcerated genital lesion with exudate (painful) |
|
Definition
| Chancroid (Haemophilus ducreyi) |
|
|
Term
|
Definition
| Bell's palsy (LMN CN VII palsy) |
|
|
Term
| Urethritis, conjunctivitis, arthritis in a male |
|
Definition
| Reiter's syndrome (reactive arthritis associated with HLA-B27) |
|
|
Term
| Vascular birthmark (port-wine stain) |
|
Definition
| Hemangioma (benign, but associated with Sturge-Weber syndrome) |
|
|
Term
| Vasculitis from exposure to endotoxin causing glomerular thrombosis |
|
Definition
| Shwartzman reaction (following second exposure to endotoxin) |
|
|
Term
| Vomiting blood following esophagogastric lacerations |
|
Definition
| Mallory-Weiss syndrome (alcoholics and eating disorders) |
|
|
Term
| "Waxy" casts with very low urin flow |
|
Definition
| Chronic end-stage renal disease |
|
|
Term
|
Definition
| Acute pyelonephritis or cystitis |
|
|
Term
| Weight loss, diarrhea, arthritis, fever, adenopathy |
|
Definition
| Whipple's disease (Tropheryma whippelii) |
|
|
Term
| "Worst headache of my life" |
|
Definition
| [Subarachnoid hemorrhage, commonly caused by] Berry aneurysm (associated with adult polycystic kidney disease) |
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