3 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... Infertility • Decr Bone ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
Newborn Infant - ... paediatrician or geneticist ... #Newborn #Infant ... #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 ... Presentation • Common Signs ... Pathophysiology ... Hemophagocytosis in bone