5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... , sleep apnea, cor ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
neurological lesion: Clinical ... • Symptoms and signs ... injury • Gait is abnormal ... Cauda equina- decreased ... differential #algorithm
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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... Transverse Myelitis - Clinical ... - Reflexes: decreased ... • Bilateral signs ... Sjogren's • CSF: - Abnormal
Nail Pathologies - Findings in or Near Nails

Paronychia 

A superficial infection of the proximal and lateral
the Fingers Clinically ... in innervation, genetics ... May arise from decreased ... Nail #Diseases #Abnormal ... #Signs #PhysicalExam