23 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... Neonatology #Peds #Pediatrics
Congenital TORCH Infections

Dr. Natalie Marshall @MicrobeNat

#Congenital #Infections #Comparison #Table #pediatrics #diagnosis #symptoms #TORCH
Congenital TORCH ... @MicrobeNat #Congenital ... Comparison #Table #pediatrics ... #diagnosis #symptoms
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
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
various types of congenital ... algorithm #causes #pediatrics ... Endocrinology #Adrenal #pathophysiology
Algorithm for the Evaluation and Management of Suspected Congenital Heart Disease in Neonates

Neonates with undiagnosed congenital
Management of Suspected Congenital ... with undiagnosed congenital ... with nonspecific symptoms ... twitter.com/thame #Congenital ... Neonatal #Peds #Pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... cardiology #peds #pediatrics
Congenital Infections - Comparison Table:
Infections: Toxoplasma, Rubella, CMV, Treponema, Parvovirus B19, VZV, Herpes, Enterovirus
Manifestations: Anemia, Bony
Congenital Infections ... Thrombocytopenia #Congenital ... Comparison #Table #pediatrics ... #diagnosis #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... 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
also known as "congenital ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Causes of Growth Restriction - Small for Gestational Age - Differential Diagnosis Algorithm
Maternal
 • Chronic Maternal
Chromosomal Anomaly • Genetic ... Syndromes • Congenital ... Causes #Obstetrics #Pediatrics