5 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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... a scrotum #21HydroxylaseDeficiency ... #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Plantar Reflex on Newborn Physical Exam 
The normal response to stroking the lateral aspect of the
extension of the great toe ... going toes or “Babinski ... sign” is normal ... Reflex #Newborn #PhysicalExam ... #video #peds #pediatrics
Primitive Suck, Rooting Reflex on Newborn Physical Exam 
The normal response to stroking the lateral aspect
extension of the great toe ... going toes or “Babinski ... sign” is normal ... Reflex #Newborn #PhysicalExam ... #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 ... are observed for signs ... Muscle tone is assessed ... Examination #Peds #Pediatrics