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diagnosis management 21hydroxylasedeficiency 21ohd anomalous congenital diagram endocrinology fallot fontan praderwilli procedure return schematic summary tapvr tetralogy total treatment venous
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... sleep apnea, cor pulmonale ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... diagnosis #management #cardiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Total Anomalous Pulmonary ... 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
Fontan Procedure Schematic A Fontan is done in most children (approximately 90%) who effectively have a single
or a congenital syndrome ... flow into the pulmonary ... Diagram #congenital #Cardiology ... #Peds #Pediatrics ... #Pathophysiology
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