9 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
complex storage diseases ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
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
Diagram of different types of bone tumors that can occur around the knee on XRay
Age <
involucrum • Paget disease ... phase • Paget disease ... blade of grass sign ... #Differential #Diagnosis ... Radiology #XRay #MSK #pediatrics
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Brudzinski’s Sign ... While the pathophysiology ... despite severe disease ... Clinical #Video #PhysicalExam ... #Pediatrics #Peds
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
40% of patients diagnosed ... history of the disease ... Genetic Predisposition ... cells in blood and bone ... Agammaglobulinemia #XLinked #pathophysiology
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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features of Liver Disease ... #LiverFailure #Signs ... #Symptoms #PhysicalExam ... #Findings #Diagnosis ... #Peds #Pediatrics
Nail Pathologies - Findings in or Near Nails

Paronychia 

A superficial infection of the proximal and lateral
in innervation, genetics ... appear in only one ... Abnormal #Pathology #Diagnosis ... #Clinical #Signs ... #PhysicalExam #
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... Newborn #Infant #PhysicalExam ... #Examination #Peds ... #Pediatrics #Diagnosis
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
Familial) HLH: - Genetic ... ▪ Autoimmune diseases ... Presentation • Common Signs ... Pathophysiology ... Hemophagocytosis in bone