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management 21hydroxylasedeficiency 21ohd anomalous bone bony cardiology differential endocrinology knee lesions myasthenia neurology praderwilli pulmonary return summary syndrome tapvr total
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Classification • Pathophysiology ... PVO Present • Diagnosis ... Classic “snowman sign ... #management #cardiology ... #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 ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Myasthenia Gravis Overview Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction. Ab to
myasthenia Diagnosis ... test - Cogan sign ... - Peek sign ... Imaging - CT Chest ... #diagnosis #management
Diagram of different types of bone tumors that can occur around the knee on XRay Age <
flame/blade of grass ... sign • Parosteal ... #Differential #Diagnosis ... #Radiology #XRay ... #MSK #pediatrics
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