5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... fractures • Short ... #genetics #pathophysiology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Keratoconus Signs / Symptoms ... / Complications ... #Keratoconus #pathophysiology ... #ophthalmology
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
-> Cotton-wool Spots ... #Retinopathy #pathophysiology ... #ophthalmology ... diagnosis #signs #symptoms ... #complications
Gitelman Syndrome Overview

What?
• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter
• Gitelman's syndrome
Gitelman Syndrome ... Hypocalciuria (spot ... diarrhea Potential Complications ... #diagnosis #nephrology ... #management #pathophysiology
Unilateral Floppy Eyelid Syndrome

This middle-aged male reported to clinic for persistent blurry vision and irritation of
Floppy Eyelid Syndrome ... some patients symptoms ... Start generic FML ... clinical #video #ophthalmology ... #neurology