6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #genetics #endocrinology ... #peds #pediatrics
Trendelenburg Gait: Pathogenesis and clinical findings

Skeletal Pathology of the Hip
 • Arthritis
 • Congenital hip dysplasia
Pathogenesis and clinical ... Chondrodysplasia Neurologic ... #causes #symptoms ... #signs #diagnosis ... #msk
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
Pathogenesis and clinical ... #pathophysiology ... #signs #symptoms ... #msk #orthopedics ... #neurology
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
conjunction with symptoms ... meningitis • Genetic ... MRI lesions and clinical ... consistent with MS ... BEE #Syndromes #neurology
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... Transverse Myelitis - Clinical ... bouts of HTN Diagnostic ... Bilateral signs and/or symptoms ... #management #neurology