7 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Galant Reflex on Physical Exam

The Galant reflex is present at birth and remains until the 2nd
study, where the pelvis ... type cerebral palsy ... #PhysicalExam #clinical ... #video #Neurology ... #Peds #Pediatrics
Moro Reflex on Newborn Physical Exam

The Moro reflex is obtained by holding the baby’s head and
Moro Reflex on Newborn ... brachial plexus palsy ... #Moro #Reflex #Peds ... #Pediatrics #Clinical ... #Video #Neurology
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
While the pathophysiology ... an involuntary reflex ... #Meningitis #Clinical ... #PhysicalExam #Pediatrics ... #Peds
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
combination of the clinical ... lateral sclerosis Pathophysiology ... cellular function Clinical ... Increased Jaw Jerk reflex ... Lateral #Sclerosis #neurology
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... Transverse Myelitis - Clinical ... Spasticity - Reflexes ... • Bilateral signs ... Pleocytosis > 100 cells