6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... clinical findings ... Signs/Symptoms ... fractures • Short ... #genetics #pathophysiology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings ... Genetics • Family ... > Keratoconus Signs ... Ring • Munson's sign ... • Rizutti's Sign
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
sclerosis Pathophysiology ... LMN signs in the ... LMN signs to determine ... LMN signs on examination ... EMG: LMN Signs in
Intermittent Bilateral Exophthalmos (Alternating Exophthalmos and Enophthalmos) on Physical Exam

Observing this patient in silence for a
symptoms which ... The syndrome of ... Differentials for ... #clinical #video ... #ophthalmology
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
skin injury) • Neurologic ... also involved), ... Behcet disease) Differential ... inhibitors • Uveitis- Ophthalmology ... diagnosis #management #signs
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... Transverse Myelitis - Clinical ... extensors of the arms (pyramidal ... signs and/or symptoms ... #differential