FARR2 Flashcards

1
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thromobosis)

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2
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (dec. LDL receptor)

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3
Q

Adrenal hemorrhage, hypotnesion, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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4
Q

Anterior drawer sign” +”

A

Anterior cruciate ligament injury

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5
Q

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

A

Marfan’s syndrome (fibrillin defect)

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6
Q

Athlete with polycythemia

A

secondary to EPO injection

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7
Q

Back pain, fever, night sweats, weight loss

A

Pott’s disease (vertebral tuberculosis)

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8
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (non-caseating granuloma)

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9
Q

Blue sclera

A

Osteogenesis imperfecta (defect type I collagen)

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10
Q

Bluish gingival line

A

Burton’s line (lead poisoning)

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11
Q

Bone pain, bone enlargement, arthritis

A

Paget’s disease of bone (inc. osteoblast and osteoclast activity)

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12
Q

Bounding pulses, diastolic heart murmur, head bobbing

A

Aortic Regurgitation

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13
Q

Butterfly facial rash, and Raynaud’s phenomenon in young female

A

Systemic Lupus Erythematosus

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14
Q

Cafe-au-lait spots, Lisch nodules (iris hamartoma)

A

Neurofibramotisis type 1 (+pheochromocytoma, optic gliomas)

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15
Q

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

McCune-Albright syndrome (mosaic G-protein signal mutation)

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16
Q

Calf psudohypertrophy

A

Muscular dsytrophy (mainly Duchenne’s); recessive X-linked deletion of dystrophin gene

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17
Q

Cherry red spot on macula

A

Tay-Sachs (ganglioside accumulation) or Niemman-Pick (sphingomyelin accumulation), central retinal artery occlusion

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18
Q

Chest pain on exertion

A

Angina (stable: with moderate exertion; unstable: with minimum exertion) (Heibel: progressive worsening = unstable)

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19
Q

Chest pain, pericaridal effusion/friction rub, persistent fever following MI

A

Dressler’s syndrome (autoimmune mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

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20
Q

Child using arms to stand up from squatting position

A

Gower’s sign (Duchenne muscular dystrophy)

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21
Q

Child with fever later develops red rash on face that spreads to body

A

Slapped cheeks (erythema infectiousum/fifth disease: parvovirus B19)

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22
Q

Chorea, dementia, caudate degeneration

A

Huntingon’s disease (autosomal dominant CAG repeat expansion)

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23
Q

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle disease (muscle glycogen phosphorylase deficiency)

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24
Q

Cold intolerance

A

Hypothyroidism

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25
Q

Conjugate lateral gaze palsy, horizontal diplopia

A

Internuclear opthalmoplegia (damage to MLF; bilateral (multiple sclerosis), unilateral (stroke)

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26
Q

Continuous machine-like” heart murmur”

A

PDA (closed with indomethacin; open or maintain with misoprostol)

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27
Q

Cutaneous/dermal edema due to connective tissue deposition

A

Myxedma (caused by hypothyroidism, Graves disease (pretibial)

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28
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi Sarcoma, associated with HHV-8

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29
Q

Deep, labored breathing/hyperventilation

A

Kussmaul respirations (diabetic ketoacidosis)

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30
Q

Dermatitis, dementia, diarrhea

A

Pellagra (nicacin (Vitamin B3) deficiency)

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31
Q

Dilated cardiomyopathy, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine (Vitamin B1) deficiency)

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32
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida (cellulitis at inoculation site)

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33
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (autoimmunedestruction of exocrine glands)

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34
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

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35
Q

Elastic skin, hypermobility of joints

A

Ehlers-Danlos syndrome (collagen type 3 defect)

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36
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

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37
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)

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38
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

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39
Q

Fat, Female, Forty, and Fertile

A

Cholelithiasis (gallstone)

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40
Q

Fever, chills, headache, myalgia following antibiotic treatment for syphillis

A

Jarish- Herxheimer reaction (rapid lysis of spirochetes results in toxin release)

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41
Q

Fever, cough, conjuctivitis, coryza, diffuse rash

A

Measles

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42
Q

Fever, night sweats, weight loss

A

B symtoms (staging) of lymphoma

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43
Q

Fibrous plaques in soft tissue of penis

A

Peyronie disease (connective tissue disorder)

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44
Q

Gout, intellectual disability, self mutilating behavior in a boy

A

Lesch-Nyan syndrome (HPRT deficiency, X-linked recessive)

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45
Q

Green-yellow rings around peripheral cornea

A

Kayser-Fleischer rings (copper accumulation from Wilson’s disease)

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46
Q

Hamartomous GI polyps, hyperpigmentation of mouth/feet/hands

A

Peutz-Jeghers synderome (inherited, benign polyposis can cause bowl obstruction; Inc. cancer risk, mainly GI)

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47
Q

Hepatosplenomegaly, osteoporosis, neurological symptoms

A

Gaucher disease (glucocerebrosidase deficiency)

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48
Q

Herditary nerphritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in type 4 collagen)

49
Q

Hyperphagia, hypersexualtiy, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

50
Q

Hyperreflexia, hypertonia, Babinski sign positive

A

UMN damage

51
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN damage

52
Q

Hypoxemia, polycythemia, hypercapnia

A

Blue Bloater” (chornic bronchitis: hyperplasia of mucous cells)”

53
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (primary syphilis, Treponema pallidum), Painful, with exudate: chancroid (Haemophilus ducreyi)

54
Q

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

Patau syndrome (trisomy 13)

55
Q

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

A

Niemman-Pick disease (genetic sphingomyelinase deficiency)

56
Q

Infant with hypoglycemia, failure to thrive, and hepatomegaly

A

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6- phosphate deficiency, more severe)

57
Q

Infant with microcephaly, rocker botom feet, clenched hands, and structural heart defect

A

Edwards syndrome (trisomy 18)

58
Q

Jandince, palpable distended nontender gallbladder

A

Courvoisier sign (distal obstruction of biliary tree)

59
Q

Large rash with bull’s eye appearance

A

Erythema chronicum migrans from Ixodes tick bite (lyme disease: Borrelia)

60
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

61
Q

Male child, recurrent infection, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

62
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

63
Q

Muffled heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

64
Q

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

A

Gardner syndrome (subtype of FAP)

65
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (lysosomal ?-1,4 glucosidase deficiency)

66
Q

Neonate with arm paralysis following difficult birth

A

Erb-Duchenne palsy (superior trunk of C5-C6 brachial plexus injury: waiter’s tip”)”

67
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (pituitary infarction)

68
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia

A

Multiple sclerosis

69
Q

Oscillating slow/fast breathing

A

Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)

70
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infecious mononucleosis)

71
Q

Painful, pale, cold fingers/toes

A

Raynaud phenomenon (vasospasms in extremities)

72
Q

Painful, raised red lesions on pad of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

73
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/microabcesses)

74
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

75
Q

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria

A

Henoch-Schonlein purpura (IgA vasculitis affect skin and kidneys)

76
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN I (autosomal dominant)

77
Q

Periorbital and or peripheral edema, proteinuria, hypoalbuminemia, hypercholestrolemia

A

Nephrotic syndrome

78
Q

Pink complexion, dyspnea, hyperventilation

A

Pink Puffer” (emphysema: centriacinar (smoking), panacinar (?1-antitrypsin deficiency))”

79
Q

Polyuria, renal tubular acidosis type II, growth failure, electolyte imbalances, hypophosphatemic rickets

A

Fanconi syndrome (proximal tubular reabsorption defect)

80
Q

Pruritic, purple, polygonal planar papules and plaques (6P’s)

A

Lichen planus

81
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

82
Q

Pupil accomodates but doesn’t react

A

Argyll Robertson pupil (neurosyphilis)

83
Q

Rapidly progressive leg weakness that ascends following GI/ URI

A

Guillain-Barre syndrome (acute automimmune inflammatory demyelinating polyneuropathy)

84
Q

Rash on palms and soles

A

Coxsackie A, 2* syphilis, Rocky Mountain Spotted Fever

85
Q

Recurrent colds, unusual eczema, high serum IgE

A

Hyper- IgE syndrome (Job syndrome: neutrophils chemotaxis abnormality)

86
Q

Red currant jelly” sputum in alcoholics or diabetic patients”

A

Klebsiella pneumoniae

87
Q

Red currant jelly” stools”

A

Acute mesenteric ischemia (adults), intussception (infants)

88
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

89
Q

Red urine in the morning, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

90
Q

Renal cell carcinoma (b/l), hemagnioblastomas, angiomatosis, pheochromocytomas

A

von-Hippel-Lindau disease (dominant tumor suppressor gene mutation)

91
Q

Resting tremor, rigidity, akinesia, postural instability

A

Parkinson disease (nigrostriatal dopamine depletion)

92
Q

Retinal hemorrhages with pale centers

A

Roth spots (bacterial endocarditis)

93
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome 1 (congenital unconjugated hyperbilirubinemia)

94
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

95
Q

Severe RLQ pain with rebound tenderness

A

McBurney’s sign (acute appendicitis)

96
Q

Short stature, increased incidence of tumors/leukemia, aplastic anemia

A

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

97
Q

Single palmar crease

A

Down syndrome

98
Q

Situs inversus, chronic sinusitis, bronchiectasis, infertility

A

Kartagener syndrome (dynein arm defect affecting cilia)

99
Q

Skin hyperpigmentation, hypotension, fatigue

A

Addison disease (primary adrenocortical insufficiency causing increased ACTH, and increased a-MSH production)

100
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)

101
Q

Small, irregular red spots on buccal/ lingual mucosa with blue white centers

A

Koplik spots (measles; rubeola virus)

102
Q

Smooth, flat, moist, painless white lesions on genitals

A

Condylomata lata (2* syphilis)

103
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

104
Q

Strawberry tongue””

A

Scarlet fever, Kawaskai disease, toxic shock syndrome

105
Q

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

A

Turner syndrome (45,XO)

106
Q

Sudden swollen/painful big toe join, tophi

A

Gout/podagra (hyperuricemia)

107
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)

108
Q

Swollen, hard, painful finger joints

A

Osteoarthritis (osteophytes on PIP (Bouchard nodes), DIP (Heberden nodes))

109
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic Valve Stenosis

110
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN - 2A (autosomal dominant ret mutation)

111
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

A

MEN - 2B (autosomal dominant ret mutation)

112
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (UMN lesion)

113
Q

Unilateral facial drooping involving forehead

A

Facial nerve (LMN CN VII palsy)

114
Q

Urethritis, conjuctivitis, arthritis in male

A

Reactive arthritis associated with HLA-B27

115
Q

Vascular birthmark (port-wine stain)

A

Hemangioma (benin, but associated with Sturge-Weber syndrome)

116
Q

Vomiting blood following gastroesophageal laceration

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

117
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple disease (Tropheryma whipplei)

118
Q

Worst headache of my life””

A

Subarachnoid hemorrhage