4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... PraderWilli #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
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... pathophysiology #genetics ... #endocrinology ... #peds #pediatrics
Algorithm for Management of Head Injuries in Children
Primary survey:
 • Airway and cervical spine
 • Breathing
of vomiting • Clinical ... fontanelle • Sign ... mastoid (Battle sign ... Injury #trama #pediatrics ... #peds
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
recognition and management ... HLH is a critical ... Familial) HLH: - Genetic ... Clinical Presentation ... • Common Signs