7 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... #InbornErrors ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
, UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Neonatology #Peds ... #Pediatrics #Table ... #IEM #NICU #InbornErrors
Rapid Assessment of the Neonate With Sonography (RANS) Scan

Recommended algorithm for RANS scan. 
* Abnormal vital
Abnormal vital signs ... #RANS #RAPID #POCUS ... Sonography #Neonate #Peds ... #Pediatrics #Neonatology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
Combination of Skin Findings and Arthritis in Pediatrics Patient - Differential Diagnosis
Malar rash: 
 • A
and Arthritis in Pediatrics ... not be seen try focus ... migrans: • Target sign ... differential #diagnosis #peds ... #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... are observed for signs ... #Examination #Peds ... #Pediatrics #Diagnosis