Term
Polyuria, acidosis, growth failure, electrolyte imbalances |
|
Definition
Fanconi's syndrome (proximal tubular reabsorption defect |
|
|
Term
Positive anterior drawer sign |
|
Definition
|
|
Term
Ptosis, miosis, anhidrosis |
|
Definition
Horner's syndrome (sympathetic chain lesion; seen with a pancoast tumor of the lung) |
|
|
Term
pupil accommodates but does not react |
|
Definition
Argyll Robertson pupil (neurosyphilis) |
|
|
Term
Rapidly progressive leg weakness that ascends (following GI/ URI) |
|
Definition
Guillain Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)-->may also present after vaccine or Campylobacter jejuni infection |
|
|
Term
|
Definition
Coxsackie A virus Rocky mountain spotted fever Syphilis (2) |
|
|
Term
Recurrent colds, unusual eczema (truncal), high serum IgE |
|
Definition
Job's syndrome (neutrophil chemotaxis abnormality) |
|
|
Term
Red "currant jelly" sputum in an alcoholic or diabetic |
|
Definition
|
|
Term
|
Definition
|
|
Term
Red, itchy, swollen rash of nipple/areola |
|
Definition
Paget's diseae of the breast (represents underlying neoplasm) |
|
|
Term
Red urine in the morning, fragile RBCs |
|
Definition
Paroxysmal nocturnal hemoglobinuria |
|
|
Term
Renal cell carcinoma (bilaterally), hemangioblastoma, angiomatosis, pheochromocytoma |
|
Definition
von Hippel-Lindau disease (dominant tumor suppressor gene mutation) |
|
|
Term
Resting tremor, rigidity, akinesia, postural instability |
|
Definition
Parkinson's disease (nigrostriatal dopamine depletion) |
|
|
Term
Retinal hemorrhages with pale centers |
|
Definition
Roth's spots (bacterial endocarditis) |
|
|
Term
Severe jaundice in neonate |
|
Definition
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia) |
|
|
Term
Severe RLQ pain with rebound tenderness |
|
Definition
McBurney's sign (appendicitis) |
|
|
Term
Short stature, increased incidence of tumors/leukemia, aplastic anemia |
|
Definition
Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML) |
|
|
Term
|
Definition
Simian crease (Down's syndrome/Trisomy 21) |
|
|
Term
Situs inversus, chronic sinusitis, bronchiectasis, infertility |
|
Definition
Kartagener's syndrome (dynein arm defect affecting cilia) |
|
|
Term
|
Definition
Addison's disease (primary adrenocortical insufficiency causes increased ACTH and a-MSH production) |
|
|
Term
Slow, progressive muscle weakness in boys |
|
Definition
Becker's muscular dystrophy (X-linked missense mutation in dystrophin) |
|
|
Term
Small, irregular red spots on buccal mucosa with blue-white centers |
|
Definition
Koplik spots (measles; Rubeola virus) |
|
|
Term
Smooth, flat, moist white lesions on genitals |
|
Definition
Condylomata lata (2 syphylis) |
|
|
Term
Splinter hemorrhages in fingernails |
|
Definition
|
|
Term
|
Definition
Scarlet fever, Kawasaki disease, toxic shock syndrome |
|
|