Created by shaikhnbakeable .
almost 4 years ago
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Gout, intellectual disability, self-mutilating behavior in a
boy
1. Syndrome
2. Enzyme affected
3. Inheritance Pattern
Situs inversus, chronic sinusitis, bronchiectasis, infertility
1. Syndrome
2. Defect
Blue Sclera
1. Disease
2. Defect
Elastic skin, hypermobility of joints, Increased bleeding tendency
1. Disease
Café-au-lait spots (unilateral), polyostotic fibrous
dysplasia, precocious puberty, multiple endocrine
abnormalities
Infant with cleft lip/palate, microcephaly or
holoprosencephaly, polydactyly, cutis aplasia
Infant with microcephaly, rocker-bottom feet, clenched
hands, and structural heart defect
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
(Glycogen Storage Disease)
Myopathy (infantile hypertrophic cardiomyopathy),
exercise intolerance
“Cherry-red spots” on macula
Hepatosplenomegaly, pancytopenia, osteoporosis,
avascular necrosis of femoral head, bone crises
Achilles tendon xanthoma
Anaphylaxis following blood transfusion
(Ig Deficiency)
Male child, recurrent infections, no mature B cells
Recurrent cold (noninflamed) abscesses, eczema, high
serum IgE, Increased eosinophils
“Strawberry tongue”
Abdominal pain, diarrhea, leukocytosis, recent antibiotic
use
Back pain, fever, night sweats
Adrenal hemorrhage, hypotension, DIC
Red “currant jelly” sputum in alcoholic or diabetic
patients
Large rash with bull’s-eye appearance
Ulcerated genital lesion
Pupil accommodates but doesn’t react
Smooth, moist, painless, wart-like white lesions on
genitals
Fever, chills, headache, myalgia following antibiotic
treatment for 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
Child with fever later develops red rash on face that
spreads to body
(viral, also causes aplastic anemia)
Fever, cough, conjunctivitis, coryza, diffuse rash
Small, irregular red spots on buccal/lingual mucosa with
blue-white centers
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 with ST 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
Telangiectasias, recurrent epistaxis, skin discoloration,
arteriovenous malformations, GI bleeding, hematuria
Skin hyperpigmentation, hypotension, fatigue
Cutaneous flushing, diarrhea, bronchospasm
Cold intolerance, weight gain, brittle hair
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
Pancreatic, pituitary, parathyroid tumors
Thyroid tumors, pheochromocytoma,
ganglioneuromatosis, Marfanoid habitus
Thyroid and parathyroid tumors, pheochromocytoma
Jaundice, palpable distended non-tender gallbladder
Vomiting blood following gastroesophageal lacerations
Dysphagia (esophageal webs), glossitis, iron deficiency
anemia
Enlarged, hard left supraclavicular node
Arthralgias, adenopathy, cardiac and neurological
symptoms, diarrhea
Severe RLQ pain with palpation of LLQ
Severe RLQ pain with deep tenderness
Hamartomatous GI polyps, hyperpigmented macules on
mouth, feet, hands, genitalia
Multiple colon polyps, osteomas/soft tissue tumors,
impacted/supernumerary teeth
Golden brown rings around peripheral cornea
Fat, female, forty, fertile
Painless jaundice
Bluish line on gingiva
Short stature, café-au-lait spots, thumb/radial defects,
increased incidence of tumors/leukemia, aplastic anemia
Red/pink urine, fragile RBCs
Painful blue fingers/toes, hemolytic anemia
Petechiae, mucosal bleeding, prolonged bleeding time
Fever, night sweats, weight loss
Skin patches/plaques, Pautrier microabscesses, atypical
T cells
WBCs that look “smudged”
Neonate with arm paralysis following difficult birth, arm
in “waiter’s tip” position
Anterior drawer sign ⊕
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
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)