6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
Clinical features of shock from dehydration in an infant

Decreased level of consciousness 
Sunken fontanelle 
Dry mucous
Clinical features ... Extremities #PhysicalExam ... #Signs #Symptoms ... #Dehydration #Peds ... #Pediatrics
Clinical features of Liver Disease in Children

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

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Clinical features ... #LiverFailure #Signs ... #Symptoms #PhysicalExam ... Findings #Diagnosis #Peds ... #Pediatrics #Hepatology
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
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
Epidemiology: • Young adults ... association • M > F Clinical ... symptoms (headache ... Behcet syndrome (Clinical ... diagnosis #management #signs
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