86 results
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... Harlequin #Ichthyosis #clinical ... #physicalexam #pediatrics ... #genetics #dermatology
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... cardiology #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... =>Prader-Willi Syndrome ... #genetics #pathophysiology ... #peds #pediatrics
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
Bronchiolitis - Pathophysiology and Clinical Features

#Pediatrics #Peds #Pathophysiology #Bronchiolitis
Bronchiolitis - Pathophysiology ... and Clinical Features ... #Pediatrics # ... Peds #Pathophysiology
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay: • Syndromic ... • Genetic Disorder ... Landau-Kleffner Syndrome ... #Causes #Peds #Pediatrics
Pemberton's Sign caused by a Retrosternal Thyroid Goiter

Elevating the arms causes the previously flat neck veins
superior vena cava syndrome ... #PhysicalExam #clinical ... neck #mass #SVC #Syndrome ... #otolaryngology
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)
Clinical features
all: fever > 101.3 F
most: oxygen
Pediatric Inflammatory ... Multisystem Syndrome ... infection (PIMS-TS) Clinical ... neck swelling #Pediatrics ... #Inflammatory #Syndrome
Prune Belly (Eagle-Barrett) Syndrome - Abdominal Examination

@MIRtirizado

#Prune #Belly #Syndrome #Abdominal #PhysicalExam #clinical #video #pediatrics #Eagle #Barrett
Eagle-Barrett) Syndrome ... #Prune #Belly #Syndrome ... #PhysicalExam #clinical ... #video #pediatrics