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diagnosis signs orthopedics pediatrics peds syndrome 21hydroxylasedeficiency 21ohd achilles caudaequina endocrinology erythematosus femoralhead fractures keratoconus lupus musculoskeletal ophthalmology pagetsdisease praderwilli
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... PraderWilli #Syndrome #genetics ... #pathophysiology
Systemic Lupus Erythematosus (SLE): Musculoskeletal Manifestations • Immune Complex Deposition - Arthralgia, Arthritis
Erythematosus #SLE #MSK ... Musculoskeletal #Complications ... #pathophysiology ... #signs #symptoms
Femoral Head Fracture: Pathogenesis and clinical findings • Posterior hip dislocation -> Impaction force from femoral
lateral hip Signs/Symptoms ... /Complications: ... FemoralHead #Fractures #msk ... #diagnosis #pathophysiology ... #signs #symptoms
Achilles Tendon Rupture - Pathogenesis and clinical findings • The Achilles tendon is 15cm long in
etiology Signs/Symptoms ... /Complications: ... diagnosis #signs #symptoms ... #pathophysiology ... #msk #orthopedics
Cauda Equina Syndrome Causes: • Large lumbar degenerative disc herniation (central) • Severe lumbar spondylosis • Neoplasm
spine Signs / Symptoms ... / Complications ... CaudaEquina #Syndrome #MSK ... #pathophysiology ... #diagnosis #symptoms
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
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Keratoconus Signs / Symptoms ... / Complications ... #Keratoconus #pathophysiology
Paget’s Disease: Complications Abnormal Osteoclasts cause excessive bone turnover -> Incr bone resorption, Incr (abnormal) bone formation MSK
Paget’s Disease: Complications ... bone formation MSK ... PagetsDisease #pathophysiology ... diagnosis #signs #symptoms ... #complications
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