4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms/Complications ... sleep apnea, cor pulmonale ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Tetralogy of Falot on Chest X-Ray
Tetralogy of Falot comprises four defects -
1. Ventricular septal defect (VSD)
2.
boot shaped heart caused ... along with concave Pulmonary ... associated with Brain ... which is a common complication ... clinical #radiology #peds
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Fetal and Post Transition Circulation

In the fetal circulatory system, oxygenated blood is delivered via the umbilical
oxygenated blood passes ... pulmonary vascular ... #Circulation #Pathophysiology ... Cardiology #Anatomy #Peds ... #Pediatrics