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Williams syndrome: features
WILLIAMS:
Weight (low at birth, slow to gain)
Iris (stellate iris)
Long philtrum
Large mouth
Increased Ca++
Aortic stenosis (and other stenoses)
Mental retardation
Swelling around eyes (periorbital puffiness)
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---Anthony Chan Chinese University of Hong Kong
 
Russell Silver syndrome: features
ABCDEF:
Asymmetric limb (hemihypertrophy)
Bossing (frontal)
Clinodactyly/ Cafe au lait spots
Dwarf (short stature)
Excretion (GU malformation)
Face (triangular face, micrognathia)
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---Anthony Chan Chinese University of Hong Kong
 
Dentition: eruption times of permanent dentition
"Mama Is In Pain, Papa Can Make Medicine":
1st Molar: 6 years
1st Incisor: 7 years
2nd Incisor: 8 years
1st Premolar: 9 years
2nd Premolar: 10 years
Canine: 11 years
2nd Molar: 12 years
3rd Molar: 18-25 years
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---Saurabh Sikka
 
Cyanotic heart diseases: 5 types
· Use your five fingers:
1 finger up: Truncus Arteriosus (1 vessel)
2 fingers up: Dextroposition of the Great Arteries (2 vessels transposed)
3 fingers up: Tricuspid Atresia (3=Tri)
4 fingers up: Tetralogy of Fallot (4=Tetra)
5 fingers up: Total Anomalous Pulmonary Venous Return (5=5 words)
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---Jeff Simmons University of Alabama School Of Medicine
 
Hemolytic-Uremic Syndrome (HUS): components
"Remember to decrease the RATE of IV fluids in these patients":
Renal failure
Anemia (microangiopathic, hemolytic)
Thrombocytopenia
Encephalopathy (TTP)
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---Vince Yamashiroya
 
Cough (chronic): differential
When cough in nursery, rock the "CRADLE":
Cystic fibrosis
Rings, slings, and airway things (tracheal rings)/ Respiratory infections
Aspiration (swallowing dysfunction, TE fistula, gastroesphageal reflux)
Dyskinetic cilia
Lung, airway, and vascular malformations (tracheomalacia, vocal cord dysfunction)
Edema (heart failure)
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---Vince Yamashiroya
 
Cystic fibrosis: presenting signs
CF PANCREAS:
Chronic cough and wheezing
Failure to thrive
Pancreatic insufficiency (symptoms of malabsorption like steatorrhea)
Alkalosis and hypotonic dehydration
Neonatal intestinal obstruction (meconium ileus)/ Nasal polyps
Clubbing of fingers/ Chest radiograph with characteristic changes
Rectal prolapse
Electrolyte elevation in sweat, salty skin
Absence or congenital atresia of vas deferens
Sputum with Staph or Pseudomonas (mucoid)
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---Vince Yamashiroya
 
Cystic fibrosis: exacerbation of pulmonary infection
CF PANCREAS:
Cough (increase in intensity and frequent spells)
Fever (usually low grade, unless severe bronchopneumonia is present)
Pulmonary function deterioration
Appetite decrease
Nutrition, weight loss
CBC (leukocytosis with left shift)
Radiograph (increase overaeration, peribronchial thickening, mucus plugging)
Exam (rales or wheezing in previously clear areas, tachypnea, retractions)
Activity (decreased, impaired exercise intolerance, increased absenteeism)
Sputum (becomes darker, thicker, and more abundant, forming plugs)
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---Vince Yamashiroya
 
Cyanotic congenital heart diseases
5 T's:
Truncus arteriosus
Transposition of the great arteries
Tricuspid atresia
Tetrology of Fallot
Total anomalous pulmonary venous return
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---Vince Yamashiroya
 
Head circumference with age
· Remember 3, 9, and multiples of 5:
Newborn 35 cm
3 mos 40 cm
9 mos 45 cm
3 yrs 50 cm
9 yrs 55 cm
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---Vince Yamashiroya
 
 
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