Genetics

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)

 

 

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)

 

 

WAGR syndrome: components WAGR:
Wilm’s tumor
Aniridia
Gential abnormalities
Mental retardation

 

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)

 
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)

 
Vacterl syndrome: components VACTERL:
Vertebral anomalies
Anorectal malformation
Cardiac anomaly
Tracheo-esophageal fistula
Exomphalos (aka omphalocele)
Renal anomalies
Limb anomalies

 

Ataxia-Telangiectasia (AT): common sign AT:
Absent
Thymus

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