4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... Complications: • Gonadal hypoplasia ... #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
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Encephalopathy Syndrome ... Clinico-Radiological Syndrome ... Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs
Fontan Procedure Schematic
A Fontan is done in most children (approximately 90%) who effectively have a single
secondary to a hypoplastic ... or a congenital syndrome ... Procedure #Schematic #Diagram ... congenital #Cardiology #Peds ... #Pediatrics #Pathophysiology