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 ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
BEE Syndromes - Non-inflammatory Causes

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

Visual or auditory symptoms in
Visual or auditory symptoms ... conjunction with symptoms ... meningitis • Genetic ... MRI lesions and clinical ... BEE #Syndromes #neurology
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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Clinical features ... of Liver Disease ... LiverFailure #Signs #Symptoms ... PhysicalExam #Findings #Diagnosis ... #Peds #Pediatrics
Differentiating NBTE from Infective Endocarditis
No pathognomonic signs/symptoms or echo features that are specific to NBTE, and
pathognomonic signs/symptoms ... high index of clinical ... is required for diagnosis ... - Infectious Diseases ... #Endocarditis #comparison
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
may precede the neurologic ... Shock, Autoimmune disease ... Neurological symptoms ... Seizures: Treat with AEDs ... #management #neurology