13 results
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... Harlequin #Ichthyosis #clinical ... #video #physicalexam ... #pediatrics #genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... diagnosis #management #cardiology ... #peds #pediatrics
Aortic Stenosis & Bicuspid Aortic Valve (AS)
 • Introduction & Pathophysiology
 • Classifications
 • Epidemiology
 •
Introduction & Pathophysiology ... Epidemiology • Clinical ... #AorticValve #cardiology ... #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... • Deletion of critical ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Pigg-O-Stat Pediatric Immobilizer Device for Pediatric Radiology

#PiggOStat #Pediatrics #Immobilizer #Device #Radiology #clinical #video
Pigg-O-Stat Pediatric ... Radiology #PiggOStat ... #Pediatrics #Immobilizer ... #Device #Radiology ... #clinical #video
Pigg-O-Stat Pediatric Immobilizer Device for Pediatric Radiology Positioning

#PiggOStat #Pediatrics #Immobilizer #Device #Radiology #clinical #video
Pigg-O-Stat Pediatric ... Radiology Positioning ... #PiggOStat #Pediatrics ... Immobilizer #Device #Radiology ... #clinical #video
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
While the pathophysiology ... Video by Dr. ... Sign #Meningitis #Clinical ... #Video #PhysicalExam ... #Pediatrics #Peds