7 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... delayed puberty -> Infertility ... 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 ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Tone - Leg Traction on Physical Exam
Leg traction is done by holding the leg by the
on the leg is a sign ... Extremity #tone #Newborn ... #PhysicalExam #clinical ... #video #peds #pediatrics
Primitive Suck, Rooting Reflex on Newborn Physical Exam 
The normal response to stroking the lateral aspect
Rooting Reflex on Newborn ... toes or “Babinski sign ... Primitive #Reflex #Newborn ... #PhysicalExam #clinical ... #video #peds #pediatrics
Tone - Hand Position on Physical Exam

A newborn baby’s hand is held in a fisted position
Physical Exam A newborn ... fisted hand is a sign ... #Hand #tone #Newborn ... #PhysicalExam #clinical ... #video #peds #pediatrics
Plantar Reflex on Newborn Physical Exam 
The normal response to stroking the lateral aspect of the
Plantar Reflex on Newborn ... toes or “Babinski sign ... Babinski #Reflex #Newborn ... #PhysicalExam #clinical ... #video #peds #pediatrics
Newborn Infant - Routine Examination

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