Term
Abdominal pain, ascites, hepatomegaly |
|
Definition
Budd-Chiari Syndrome
(posthepatic venous thrombosis) |
|
|
Term
|
Definition
Familial hypercholesterolemia |
|
|
Term
Adrenal hemorrhage, hypotension, DIC |
|
Definition
Waterhouse-Friderichsen Syndrome
(meningococcemia) |
|
|
Term
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints |
|
Definition
Marfan's Syndrome
(fibrillin defect) |
|
|
Term
|
Definition
|
|
Term
Back pain, fever, night sweats, weight loss |
|
Definition
Pott's disease (vertebral TB) |
|
|
Term
Bilateral hilar adenopathy, uveitis |
|
Definition
Sarcoidosis
(noncaseating granulomas) |
|
|
Term
Blue sclear, type I collagen defect |
|
Definition
|
|
Term
|
Definition
Burton's line
(lead poisoning) |
|
|
Term
Bone pain, bone enlargement, arthritis |
|
Definition
Paget's disease of bone
(↑osteoblastic and osteoclastic activity) |
|
|
Term
Bounding pulses, diastolic heart murmur, head bobbing |
|
Definition
|
|
Term
Café-au-lait spots, Lisch nodules (iris hamartoma) |
|
Definition
Neurofibromatosis type I (+pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+bilateral acoustic neuromas) |
|
|
Term
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty |
|
Definition
McCune-Albright syndrome
(mosaic G-protein signaling mutation) |
|
|
Term
|
Definition
Muscular dystrophy
(most commonly Duchenne's) |
|
|
Term
"Cherry-red spot" on macula |
|
Definition
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion |
|
|
Term
Chest pain, pericardial effusion/friction rub, persistent fever following MI |
|
Definition
Dressler's Syndrome (autoimmune-mediated post-MI fibrinous pericarditis), 1-12 weeks after acute episode |
|
|
