3 results
Fontan Procedure Schematic
A Fontan is done in most children (approximately 90%) who effectively have a single
Fontan Procedure ... secondary to a hypoplastic ... #Schematic #Diagram ... congenital #Cardiology #Peds ... #Pediatrics #Pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... Complications: • Gonadal hypoplasia ... 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 ... a scrotum #21HydroxylaseDeficiency ... #21OHD #pathophysiology ... endocrinology #peds