5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #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 ... enzyme 21-OHase causes ... #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Passive neck flexion causes ... While the pathophysiology ... #Meningitis #Clinical ... #Video #PhysicalExam ... #Pediatrics #Peds
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
If abnormal, this ... paediatrician or geneticist ... Newborn #Infant #PhysicalExam ... #Examination #Peds ... #Pediatrics #Diagnosis
Nail Pathologies - Findings in or Near Nails

Paronychia 

A superficial infection of the proximal and lateral
the Fingers Clinically ... in innervation, genetics ... seen in Reiter's syndrome ... Nail #Diseases #Abnormal ... #Signs #PhysicalExam