5 results
signs diagnosis genetics 21hydroxylasedeficiency 21ohd dehydration disease kawasaki osteomalacia physicalexam praderwilli rickets shock syndrome
Clinical features of shock from dehydration in an infant Decreased level of consciousness Sunken fontanelle Dry mucous
Clinical features ... dehydration in an infant ... #PhysicalExam #Signs ... #Symptoms #Shock ... #Peds #Pediatrics
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. Affects
Affects children ... Kawasaki #Disease #Features ... #Signs #Symptoms ... #Diagnosis #Peds ... #Pediatrics
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
deficiencies present in infants ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Rickets and Osteomalacia: Pathogenesis and Clinical Findings • Calcification inhibitors (excess exposure to A1, Fluoride, etidronate)
severe deficiency (infants ... mineralization defect ... #Osteomalacia #pathophysiology ... #diagnosis #signs ... #symptoms
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