4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... 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
RADIAL HEAD FRACTURE 
Radial head fractures are the most common elbow fracture in adults and are
radiocapitellar lines), fat pads ... anterior sail sign ... fracture • ED Management ... XRay #Diagnosis #Management ... #Orthopedics #MSK
Supracondylar Elbow Fracture
• Most common elbow fracture in children, peak age 5-7 
• When looking at
anterior sail sign ... can't make A-OK sign ... brachial artery injury ... syndrome • ED Management ... #Orthopedics #MSK