8 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
Positive Babinski Reflex with dorsiflexion of the big toe after stroking the sole of the foot.
This
Positive Babinski Reflex ... flexor response by 12 ... Upgoing #Positive #Peds ... #Pediatrics #Clinical ... #Video #PhysicalExam
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
an involuntary reflex ... Video by Dr. ... #Meningitis #Clinical ... #Video #PhysicalExam ... #Pediatrics #Peds
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... seizure, primitive reflexes ... pathophysiology #geriatrics ... #symptoms
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
Primitive Suck, Rooting Reflex on Newborn Physical Exam 
The normal response to stroking the lateral aspect
Suck, Rooting Reflex ... toes or “Babinski sign ... Rooting #Primitive #Reflex ... #PhysicalExam #clinical ... #video #peds #pediatrics
Plantar Reflex on Newborn Physical Exam 
The normal response to stroking the lateral aspect of the
Plantar Reflex on ... toes or “Babinski sign ... Primitive #Babinski #Reflex ... #PhysicalExam #clinical ... #video #peds #pediatrics
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 ... This reflex is not ... #Examination #Peds ... #Pediatrics #Diagnosis