8 results
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... #management #cardiology ... #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Wolff–Parkinson–White syndrome (WPW) Study Card #Pathophysiology #Diagnosis #Cardiology #MedStudent #EKG #WPW #WolffParkinsonWhite #DeltaWave #ShortPR #Criteria #ECGEducator
Wolff–Parkinson–White syndrome ... WPW) Study Card #Pathophysiology ... #Diagnosis #Cardiology ... DeltaWave #ShortPR #Criteria
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
deficiencies present in infants ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Wolff–Parkinson–White syndrome (WPW) is one of several disorders of the electrical system of the heart that
Wolff–Parkinson–White syndrome ... pre-excitation syndromes ... #Pathophysiology ... #Diagnosis #Cardiology ... DeltaWave #ShortPR #Criteria
Causes of Severe Aortic Regurgitation - Differential Diagnosis
Acute:
 • Leaflet: Traumatic Rupture, Acute Infective Endocarditis, Acute
- Differential Diagnosis ... Chronic - Aorta: • Infxn ... Cogan's Disease • Genetic ... Ehlers-Danlos Syndrome ... #Causes #cardiology
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
Newborn Infant - ... When the diagnosis ... paediatrician or geneticist ... Examination #Peds #Pediatrics ... #Diagnosis
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
Familial) HLH: - Genetic ... Onset: Usually in infancy ... Pathophysiology ... Diagnostic Criteria ... of 8 HLH-2004 criteria