6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... Infertility • Decr Bone ... #genetics #pathophysiology ... #peds #pediatrics
Tone - Arm Recoil on Physical Exam
Arm recoil tests tone and action of the biceps. The
Exam Arm recoil tests ... #ArmRecoil #Newborn ... #PhysicalExam #clinical ... #video #tone #peds ... #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... ... laboratory tests ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... hyperorality, - 25% genetic
Myasthenia Gravis Overview

Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction.  Ab to
myasthenia Diagnosis ... Bedside: ice pack test ... /Edrophonium test ... - Cogan sign ... - Peek sign 2.
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 ... Muscle tone is assessed ... #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 ... Abnormal #Pathology #Diagnosis ... #Clinical #Signs