Gout, intellectual disability, self-mutilating behavior in a boy
Situs inverses, chronic sinusitis, bronchiectasis, infertility
Blue sclera
Elastic skin, hypermobility of joints, increased bleeding tendency
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
Calf pseudohypertrophy
Child uses arms to stand up from squat
Slow, progressive muscle weakness in boys
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Single (transverse) palmar crease
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Dermatitis, dementia, diarrhea
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
Infant with hypoglycemia, hepatomegaly
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
“Cherry-red spots” on macula
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Achilles tendon xanthoma, xanthelasma (such as by eyes)
Anaphylaxis following blood transfusion
Male child with recurrent infections, no mature B cells
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
“Strawberry tongue”
Adrenal hemorrhage, hypotension, DIC
Red “currant jelly” sputum in alcoholic or diabetic patients
Large rash with bull’s-eye appearance
Indurated, ulcerated genital lesion. Nonpainful
Indurated, ulcerated genital lesion. Painful, with exudate
Pupil accommodates but doesn’t react to light
Smooth, moist, painless, wart-like white lesions on genitals
Fever, chills, headache, myalgia following antibiotic treatment syphilis
Dog or cat bite resulting in infection
Rash on palms and soles
Black eschar on face of patient with diabetic ketoacidosis
Chorioretinitis, hydrocephalus, intracranial calcifications
Fever, cough, conjunctivitis, coryza, diffuse rash (starting on face and then spreading down)
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Back pain, fever, night sweats
Child with fever later develops red rash on face (“slapped cheeks” appearance) that spreads to body
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Systolic ejection murmur (crescendo-decrescendo)
Continuous “machine-like” heart murmur
Chest pain on exertion
Chest pain at rest
Chest pain with ST segment depressions on ECG
Chest pain, pericardial effusion / friction rub, persistent fever following MI
Painful, raised red lesions on pads of fingers/toes
Painless erythematous lesions on palms and soles
Splinter hemorrhages in fingernails
Retinal hemorrhages with pale centers
Distant heart sounds, distended neck veins, hypotension
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Telangiectasis, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Skin hyperpigmentation, hypotension, fatigue
Cold intolerance
Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue
Facial muscle spasm upon tapping
No lactation postpartum, absent menstruation, cold intolerance
Deep, labored breathing / hyperventilation (Kussmaul Respirations)
Cutaneous flushing, diarrhea, bronchospasm
Pancreatic, pituitary, parathyroid tumors
Thyroid tumors (medullary), pheochromocytoma, ganglioneuromatosis, Marfanoid habitus
Thyroid (medullary) and parathyroid tumors, pheochromocytoma
Jaundice, palpable distended non-tender gallbladder
Painless jaundice
Vomiting blood following gastroesophageal lacerations (painful)
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Enlarged, hard left supraclavicular node
Weight loss, diarrhea, arthritis, fever, adenopathy
Severe RLQ pain with palpation of LLQ
Severe RLQ pain with deep tenderness (and guarding)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Multiple (hundreds) of colon polyps, osteomas / soft tissue tumors, impacted / supernumerary teeth
Abdominal pain, ascites, hepatomegaly
Severe jaundice in neonate
Golden brown rings around peripheral cornea
Fat, female, forty, fertile, familial
Short stature, cafe-au-lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Red urine in the morning, fragile RBCs
Painful blue fingers/toes, hemolytic anemia
Mucosal bleeding and prolonged bleeding time
Fever, night sweats, weight loss
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
WBCs that look “smudged”
Athlete with polycythemia
Neonate with arm paralysis following difficult birth, arm in “waiter’s tip” position
Anterior “drawer sign” is positive
Bone pain, bone enlargement, arthritis
Swollen, hard, painful finger joints in an elderly individual, pain worse with activity
Sudden swollen/painful big toe joint, tophi
Dry eyes, dry mouth, arthritis
Urethritis, conjunctivitis, arthritis in a male
“Butterfly” facial rash and Raynaud phenomenon in a young female
Painful fingers/toes changing color from white to blue to red with cold or stress
Anticentromere antibodies
Dark purple skin/mouth nodules in a patient with AIDS
Anti-desmoglein (anti-desmosome) antibodies
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Increased AFP in amniotic fluid / maternal serum
Toe extension / fanning upon plantar scrape
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Lucid interval after traumatic brain injury (before unconsciousness)
“Worst headache of my life”
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Chorea, dementia, caudate degeneration
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
Rapidly progressive limb weakness that ascends following GI / upper respiratory infection
Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Vascular birthmark (port-wine stain) of the face
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
Bilateral acoustic schwannomas
Hyperreflexia, hypertonia, Babinski sign present
Hyporeflexia, hypotonia, atrophy, fasciculations
Unilateral facial drooping involving forehead
Episodic vertigo, tinnitus, hearing loss
Ptosis, miosis, anhidrosis
Conjugate horizontal gaze palsy, horizontal diplopia
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Bluish line on gingiva
Periorbital and/or peripheral edema, proteinuria ( > 3.5g/day), hypoalbuminemia, hypercholesterolemia
Hereditary nephritis, sensorineural hearing loss, cataracts
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Red, itchy, swollen rash of nipple/areola
Fibrous plaques in soft tissue of penis with abnormal curvature
Hypoxemia, polycythemia, hypercapnia
Pink complexion, dyspnea, hyperventilation
Bilateral hilar adenopathy, uveitis
Show Comments