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peds diagnosis management 21hydroxylasedeficiency 21ohd cardiology endocrinology examination hematology hemeonc hemophagocytic hlh infant lymphohistiocytosis newborn physicalexam praderwilli pulmonary return summary
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Total Anomalous ... Classification • Pathophysiology ... Classic “snowman sign ... crholton #Total #Anomalous ... cardiology #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
is also a late sign ... particularly if other anomalies ... paediatrician or geneticist ... are observed for signs ... Examination #Peds #Pediatrics
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
Familial) HLH: - Genetic ... Presentation • Common Signs ... Pathophysiology ... Diagnosis #Management #Hematology
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