3 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... Poor suckling -> Neonatal ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... antibodies) -> Complete ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology
Evaluation of suspected incomplete Kawasaki Disease

1. AHA consensus recommendations
2. Infants ≤6 months old on day ≥7
Evaluation of suspected incomplete ... lack of tapering, decreased ... clinical and lab signs ... #Diagnosis #Peds ... #Algorithm