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

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
- Differential ... and signs below ... decreased muscle tone ... Vascular/Blockage ... diagnosis #neurology #differential
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Late (shock): cold ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics