6 results
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... Ichthyosis #clinical #video ... #physicalexam # ... pediatrics #genetics
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab values ... from UpToDate and Pediatrics ... additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis
Abnormal pulsation in the neck in the setting of Aortic Coarctation

10 yo male,  his father
Echocardiogram shows ... Mario Vargas Galgani ... Neck #Pulsation #PhysicalExam ... Aorta #Clinical #Video
Quincke's Pulse in a patient with a normal echocardiogram (non-valvular)

A 70 y/o man presents with new
with a normal echocardiogram ... is identified (video ... AorticRegurgitation #Diagnosis ... #PhysicalExam #
Newborn Infant - Routine Examination

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