5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Associated Genetic ... Tetralogy #Fallot #diagnosis ... #management #cardiology ... #peds #pediatrics
Tetralogy of Fallot 

1. Right ventricular outflow tract obstruction 

2. Right ventricular hypertrophy 

3. Ventricular septal
Tetralogy #Fallot #Peds ... #Pediatrics #Cardiology ... #Signs #Symptoms ... #Diagnosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
17-year-old male s/p syncopal episode. #Brugada type 3 seen on 12 lead #EKG. Diagnosis confirmed by
Diagnosis confirmed ... by Pediatric #Cardiology ... #cardiology #ekg ... electrocardiogram #diagnosis ... #em #peds #pediatrics