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Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan's syndrome (fibrillin defect)
Back pain, fever, night sweats, weight loss
Poll's disease (vertebral tuberculosis)
Big toe extension/fanning upon plantar scrape
Babinski's sign (UMN lesion)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Blue sclera
Osteogenesis imperfeda (collagen defect)
Bluish line on gingiva
Burton's line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget's disease of bone (1 osteoblastic and osteoclastic activity)
Cafe-au-tall spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+ bilateral acoustic neuromas = type II)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne's)
"Cherry-red spot" on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (lysosomal storage disease)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler's syndrome (autoimmune-mediated post-MI fibrinous pericarditis)
Child uses arms to stand up from squat
Gowers' sign (Duchenne muscular dystrophy- X-linked recessive deleted dystrophin gene)
Child with fever develops red rash on face that spreads to body
"Slapped cheeks" (erythema infediosum/fifth disease- parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington's disease (autosomal-dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps
McArdle's disease (muscle phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral[stroke])
Continuous "machinery" heart murmur
PDA (close with indomethacin; open with misoprostol)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (hypothyroidism, Graves' disease)
Dark purple skin/mouth nodules
Kaposi's sarcoma (usually AIDS patients [gay men]- associated with HHV-8)
Deep, labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, polyneuropathy
Wet beriberi (thiamine [vitamin Bl] deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida
Dry eyes, dry mouth, arthritis
Sjogren's syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (collagen defect)
Enlarged, hard left supraclavicular node
Virchow's node (abdominal metastasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
Facial muscle spasm upon tapping
Chvostek's sign (hypocalcemia)
Fat, female, forty, and fertile
Acute cholecystitis (bile duct blockage)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
larisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
Fever, night sweats, weight loss
B symptoms (lymphoma)
Fibrous plaques in soft tissue of penis
Peyronie's disease (connedive tissue disorder)
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency)
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson's disease)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-leghers syndrome (genetic benign polyposis can cause bowel obstruction; T cancer risk)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher's disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport's syndrome (collagen mutation)
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau's sign (adenocarcinoma of pancreas or lung)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
Hypertension, hypokalemia, metabolic acidosis
Conn's syndrome (1 ° hyperaldosteronism)
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis- hyperplasia of mucous cells)
Indurated, ulcerated genital lesion (nonpainful)
Chancre (1 ° syphilis- Treponema pallidum)
Infant with failure to thrive, hepatosplenomegalv, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori's disease (debranching enzyme deficiency)
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