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diagnosis genetics pediatrics 21hydroxylasedeficiency 21ohd differential endocrinology femoralhead management myelitis neurology orthopedics pagetsdisease praderwilli syndrome transverse
Femoral Head Fracture: Pathogenesis and clinical findings • Posterior hip dislocation -> Impaction force from femoral
onto lateral hip Signs ... /Symptoms/Complications ... #msk #diagnosis ... #pathophysiology ... #signs #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... Incr Skeletal fractures ... 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
Signs/Symptoms/Complications ... vomiting • Late (shock ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds
Paget’s Disease: Complications Abnormal Osteoclasts cause excessive bone turnover -> Incr bone resorption, Incr (abnormal) bone formation MSK
bone formation MSK ... -> Pathologic fractures ... PagetsDisease #pathophysiology ... #diagnosis #signs ... #symptoms #complications
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... Alterations: - Sensory features ... Diagnostic Criteria ... • Bilateral signs ... and/or symptoms
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