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cardiology diagnosis management 21hydroxylasedeficiency 21ohd anomalous anomaly ebstein endocrinology fallot praderwilli pulmonary return summary syndrome tapvr tetralogy total treatment venous
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... diagnosis #management #cardiology ... #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... Poor suckling -> Neonatal ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Ebstein Anomaly • Prevalence • Pathophysiology • Presentation • Physical Examination Findings • Initial Management •
Prevalence • Pathophysiology ... • Surgery in Neonates ... diagnosis #management #cardiology ... #pediatrics #peds
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Classification • Pathophysiology ... Classic “snowman sign ... diagnosis #management #cardiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
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