Clinical Presentation | Diagnosis |
Recurrent colds unusual eczema, high serum IgE | |
No lactation postpartum, absent menstruation, cold intolerance | |
Cold intolerance | |
Pancreatic, pituitary, parathyroid tumors | |
Positive anterior “drawer sign” | |
Hepatosplenomegaly, osteoporosis, neurologic symptoms | |
Fever, night sweats, weight loss | |
Vomiting blood following esophagogastric lacerations | |
Painful, raised red lesions on palms and soles | |
Hamartamous GI polyps, hyperpigmentation of mouth / feet / hands | |
Enlarged, hard left supraclavicular node | |
Nystagmus, intention tremor, scanning speech, bilateral intranuclear opthalmoplegia | |
Pupil accommodates but doesn’t react | |
Splinter hemorrhages in fingernails | |
Continuous “machinery” heart murmur | |
Painless jaundice | |
Child with fever develops red rash on face that spread to body | |
Single palm crease | |
Dysphagia (esophageal webs), glossitis, iron deficiency anemia | |
Hyperphagia, hypersexuality, hyperorality, hyperdocility | |
Dark purple skin / mouth nodules | |
Red, itchy, swollen rash of nipple areola | |
Calf pseudohypertrophy | |
Child uses arms to stand up from squat | |
Chest pain, pericardial effusion / friction rub, persistent fever following MI | |
Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma | |
Green-yellow rings around peripheral cornea | |
Large rash with bull’s-eye appearance | |
Small, irregular red spots on buccal / inguinal mucosa with blue-white centers | |
Abdominal pain, ascites, hepatomegaly | |
Bounding pulses, diastolic heart murmur, head bobbing | |
Painful, pale, cold fingers / toes | |
Pink complexion, dyspnea, hyperventilation | |
Hypoxemia, polycythemia, hypercapnia | |
Fever, chills, headache, myalgia following antibiotic treatment for syphilis | |
Smooth, flat, moist white lesions on genitals | |
Rash on palms and soles | |
“Cherry-red spot” on macula (hexosaminidase | |
Dog or cat bite resulting in infection | |
Bilateral hilar adenopathy, uveitis | |
Arachnodactyly, lens discoloration, aortic dissection, hyperflexible joints | |
Swollen, hard, painful finger joints | |
Skin hyperpigmentation | |
Toe extension / fanning upon plantar scrape | |
Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance | |
“Waxy” casts with very low urine flow | |
Infant with hypoglycemia, failure to thrive, and hepatomegaly | |
Bluish line on gingiva | |
Rash on palms and soles | |
Athlete with polycythemia | |
“Strawberry tongue” (Strep. pyogenes) | |
Café-au-lait spots, Lisch nodules (iris hamartoma), pheochromocytoma, optic gliomas | |
Slow, progressive muscle weakness in boys | |
Situs inversus, chronic sinusitis, bronchiectasis | |
Elastic skin, hypermobility of joints | |
“Strawberry tongue” (Staph. aureus) | |
Streak ovaries, congenital heart disease, horseshoe kidney | |
Sudden swollen / painful big toe joint, tophi | |
Systolic ejection murmur (crescendo-decrescendo) | |
Indurated, non-painful ulcerated genital lesion | |
Keratin pearls in a skin biopsy | |
| Clinical Presentation | Diagnosis |
Café-au-lait spots, Lisch nodules (iris hamartoma), pheochromocytoma, optic gliomas, bilateral acoustic neuromas | |
Resting tremor, rigidity, akinesia, postural instability | |
Polyuria, acidosis, growth failure, electrolyte imbalances | |
Dry eyes, dry mouth, arthritis | |
Thyroid and parathyroid tumors, pheochromocytoma | |
Rapidly progressive leg weakness that ascends (following GI/upper respiratory infection) | |
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis, c-ANCA positive | |
Chorea, dementia, caudate degeneration | |
Vascular birthmark (port-wine stain) | |
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis, anti-basement membrane antibodies | |
Muscoal bleeding and prolonged bleeding time | |
Short stature, ↑ incidence of tumors / leukemia, aplastic anemia | |
Lucid interval after traumatic brain injury | |
Hypercoagulability leading to migrating DVTs and vascultitis | |
“Cherry-red spot” on macula (vascular) | |
Multiple colon polyps, osteomas / soft tissue tumors, impacted / supernumerary teeth | |
Severe jaundice in neonate | |
Back pain, fever, night sweats, weight loss | |
Palpable purpura, joint pain, abdominal pain (child) | |
“Cherry-red spot” on macula (sphingomyelinase) | |
Painful blue fingers toes, hemolytic anemia | |
Hereditary nephritis, sensorineural hearing loss, cataracts | |
Hypertension, hypokalemia, metabolic acidosis | |
Adrenal hemorrhage, hypotension, DIC | |
Facial muscle spasm upon tapping | |
Red urine in the morning, fragile RBCs | |
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration | |
Red “currant jelly” sputum in alcoholic or diabetic patients | |
Chronic exercise intolerance with myalgia, fatigue, painful cramps | |
Unilateral facial dropping invoving forhead | |
Gout, mental retardation, self-mutilating behavior in boy | |
Erytheroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells | |
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect | |
Ptosis, miosis, anhydrosis | |
Cutaneous / dermal edema due to connective tissue deposition | |
Fibrous plaques in soft tissue of penis | |
Dermatitis, dementia, diarrhea | |
Jaundice, RUQ pain, fever | |
Deep labored breathing / hyperventilation | |
Male child, recurrent infections, no mature B cells | |
Oscillating slow/fast breathing | |
Blue sclera | |
Vasculitis from exposure to endotoxin causing glomerular thrombosis | |
Neonate with arm paralysis following difficult birth | |
“Worst headache of my life” | |
Urethritis, conjunctivitis, arthritis in a male | |
Weight loss, diarrhea, arthritis, fever, adenopathy | |
Conjugate lateral gaze palsy, horizontal diplopia | |
WBC casts in urine | |
Dilated cardiomyopathy, edema, polyneuropathy | |
Severe RLQ pain with rebound tenderness | |
Fever, cough, conjunctivitis, coryza, diffuse rash | |
Swollen gums, mucous leeding, poor wound healing, spots on skin | |
Painful erythematous lesions on palms and soles | |
“Strawberry tongue” (Vasculitis) | |
Indurated, painful ulcerated genital lesion with exudates | |
Bone pain, bone enlargement, arthritis | |
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty | |
Retinal hemorrhages with pale centers | |
Fat, female, forty, and fertile | |
Achilles tendon xanthoma | |
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