6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Syndrome Signs ... /Symptoms/Complications ... #genetics #pathophysiology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... / Symptoms / Complications
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
association • M > F Clinical ... lesions, pyoderma gangrenosum ... (Clinical Dx). ... diagnosis #management #signs ... #symptoms #rheumatology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... predisposition - Various genetic ... nephrotic/nephritic syndrome ... Pathophysiology #Diagnosis #Signs ... #Symptoms
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... an underlying genetic ... Diagnosis: HLH signs ... and symptoms can
Pemberton’s Sign in a Patient with a Goiter- Physical examination revealed an enlarged thyroid with no
Pemberton’s Sign ... Pemberton’s sign ... superior vena cava syndrome ... #clinical #photo ... #NEJM #Pembertons