7 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... / Symptoms / Complications ... • Rizutti's Sign ... #Keratoconus #pathophysiology ... #ophthalmology
Orbital Cellulitis: Pathogenesis and Clinical Findings
Definitions:
a. Chemosis: Edema of the bulbar conjunctiva
b. Panopthalmitis: inflammation of all
Afferent pupillary defect ... Orbital #Cellulitis #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings
OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
lights are a key symptom ... damage & blindness Signs ... • Visual field defects ... ClosedAngle #Glaucoma #pathophysiology ... #ophthalmology
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
Pituitary Mass Effects ... Signs / Symptoms ... #SideEffects #endocrinology ... mnemonic #GLFTAP #pathophysiology
Central Retinal Artery Occlusion: Pathogenesis and clinical findings
 • Inflammatory Disease: (i.e. GCA, SLE, GPA) ->
arrhythmias, congenital defects ... Occlusion #CRAO #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms