Term
Abdominal pain
Ascites
Hepatomegaly |
|
Definition
| Budd-Chiari syndrome (posthepatic venous thrombosis) |
|
|
Term
|
Definition
| Familial hypercholesterolemia (decreased LDL receptor signaling) |
|
|
Term
Adrenal hemorrhage
Hypotension
DIC |
|
Definition
| Waterhous-Friderichsen syndrome (meningococcemia) |
|
|
Term
Arachnodactyly
Lens dislocation
Aortic dissection
Hyperflexible joints |
|
Definition
| Marfan's syndrome (fibrillin defect) |
|
|
Term
| Athlete with polycythemia |
|
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
|
Definition
| Osteogenesis imperfecta (collagen defect) |
|
|
Term
|
Definition
| Burton's line (lead poisoning) |
|
|
Term
Bone pain
Bone enlargement
Arthritis |
|
Definition
| Paget's disease of bone (increased osteoblastic and osteoclastic activity) |
|
|
Term
Bounding pulses
Diastolic heart murmur
Head bobbing |
|
Definition
|
|
Term
| Butterfly facial rash and Raynaud's phenomenon in a young female |
|
Definition
| Systemic lupus erythematosus |
|
|
Term
Cafe-au-lait spots
Lisch nodules (iris hamartoma) |
|
Definition
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+ bilateral acoustic neuromas) |
|
|
Term
Cafe-au-lait spots
Polyostotic fibrous dysplasia
Precocious puberty |
|
Definition
| McCune-Albright syndrome (mosaic G-protein signaling mutation) |
|
|
Term
|
Definition
| Muscular dystrophy (MC Duchenne's): X-linked recessive deletion of dystrophin gene |
|
|
Term
| "Cherry-red spot" on macula |
|
Definition
| Tay-Sachs (ganglioside accumulation) or Neimann-Pick (sphingomyelin accumulation), central retinal artery occlusion |
|
|
Term
|
Definition
| Angina (stable: moderate exertion; unstable: minimal exertion) |
|
|
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) |
|
|
Term
| Child uses arm to stand up from squat |
|
Definition
| Gowers' sign (Duchenne muscular dystrophy) |
|
|
Term
| Child with fever develops red rash on face that spreads to body |
|
Definition
| "Slapped cheeks" (erythema infectiosus/fifth disease: parvovirus B19) |
|
|
Term
Chorea
Dementia
Caudate degeneration |
|
Definition
| Huntington's disease (autosomal-dominant CAG repeat expansion) |
|
|
Term
| Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria |
|
Definition
| McArdle's disease (muscle glycogen phosphorylase deficiency) |
|
|
Term
|
Definition
|
|
Term
Conjugate lateral gaze palsy
Horizontal diplopia |
|
Definition
| Internuclear ophthalmoplegia (damage to MLF; bilateral [MS], unilateral [stroke]) |
|
|
Term
| Continuous "machinery" heart murmur |
|
Definition
| PDA (close with indomethacin; open with misoprostol) |
|
|
Term
| Cutaneous/dermal edema due to connective tissue deposition |
|
Definition
| Myxedema (caused by hypothyroidism, Graves' disease [periorbital]) |
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