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genetics 21hydroxylasedeficiency 21ohd anomalous diagnosis endocrinology management praderwilli return summary syndrome tapvr total venous
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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... vomiting • Late (shock ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics
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