4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... > Neonatal and infantile ... #genetics #pathophysiology ... #peds #pediatrics
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... frequently affects infants ... Diagnosis: HLH signs ... lymph node, or liver
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
paediatrician or geneticist ... the abdomen, the liver ... in the arms and legs ... #Examination #Peds ... #Pediatrics #Diagnosis
Hemophagocytic Lymphohistiocytosis (HLH)

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