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pathophysiology 21hydroxylasedeficiency 21ohd disease endocrinology examination features kawasaki newborn physicalexam praderwilli syndrome
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... delayed puberty -> Infertility ... 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 ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. Affects
Early diagnosis ... immunoglobulin reduces the risk ... Disease #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
is also a late sign ... When the diagnosis ... paediatrician or geneticist ... #Examination #Peds ... #Pediatrics #Diagnosis
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