9 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... #Differential #Neonatology ... #Peds #Pediatrics ... Table #IEM #NICU #InbornErrors
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #InbornErrors ... #Metabolism #Neonatology ... #Peds #Pediatrics ... #Table #NICU #Genetics
Characteristic features of the rash are:

-Rough texture (like sandpaper)
-Worse in the skin folds e.g. groin, axilla,
#Dermatology #Peds ... #Pediatrics #SkinRash ... #ScarletFever # ... Trunk #Arms
Infant of a Diabetic Mother - complications - pathophysiology learning schema
Information source: UpToDate

#Infant #Diabetic #Mother #Pediatrics
complications - pathophysiology ... Diabetic #Mother #Pediatrics ... #Neonatology #IDM ... OBGYN #Diagnosis #Pathophysiology ... Complications #Peds
gestational diabetes algorithm
#Infant #Diabetic #Mother #Pediatrics #Neonatology #IDM #NICU #OBGYN #Diagnosis #Pathophysiology #Maternal #Complications #Peds #Newborn
Diabetic #Mother #Pediatrics ... #Neonatology #IDM ... OBGYN #Diagnosis #Pathophysiology ... Complications #Peds
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds ... #pediatrics #treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
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
#21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
paediatrician or geneticist ... briefly when the trunk ... #Examination #Peds ... #Pediatrics #Diagnosis