4 results
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
also known as "congenital ... Signs/Symptoms/Complications ... #pathophysiology ... endocrinology #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
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... sleep apnea, cor pulmonale ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Fontan Procedure Schematic
A Fontan is done in most children (approximately 90%) who effectively have a single
valvular atresia or a congenital ... flow into the pulmonary ... Schematic #Diagram #congenital ... #Cardiology #Peds ... #Pediatrics #Pathophysiology