5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Femoral Head Fracture: Pathogenesis and clinical findings
 • Posterior hip dislocation -> Impaction force from femoral
Avulsion or shearing injury ... /Complications: ... FemoralHead #Fractures #msk ... #diagnosis #pathophysiology ... #signs #symptoms
Meralgia paresthetica: Pathogenesis and Clinical Findings
Compression/injury of Lateral Femoral Cutaneous Nerve (LFCN) -> Meralgia paresthetica
 •
Findings Compression/injury ... paresthetica • Symptoms ... MeralgiaParesthetica #MSK ... #pathophysiology ... #differential #
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
10-33% develop MS ... monophasic Pathophysiology ... Presentation: Injury ... Bilateral signs and/or symptoms ... management #neurology #differential