97 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... • Deletion of critical ... delayed puberty -> Infertility ... pathophysiology #peds
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
confirmed the diagnosis ... acid lipase is critical ... #clincial #peds ... calcifications #infant #NEJM
Brain tumors in children – clinical features and common presentations by location- 

#Common #Brain #Tumors #Cancer
in children – clinical ... Presentations #Diagnosis ... #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 ... Hirsutism & acne • Infertility ... endocrinology #peds
Kawasaki Disease - Clinical Criteria #Diagnosis #Peds #Pediatrics #Kawasaki #Disease #Manifestations #Criteria #ALiEM
Kawasaki Disease - Clinical ... Criteria #Diagnosis ... #Peds #Pediatrics
Epiglottitis - Swollen inflamed epiglottis 
Clinical (Rapid onset) 
 • Fever 
 • Sore throat
inflamed epiglottis Clinical ... Signs #Causes #Diagnosis ... #Differential #Peds
Aortic Stenosis & Bicuspid Aortic Valve (AS)
 • Introduction & Pathophysiology
 • Classifications
 • Epidemiology
 •
Epidemiology • Clinical ... • Radiologic/Diagnostic ... AorticValve #cardiology #peds
Pediatric Discitis - Inflammation of intervertebral disc 
Etiology 
 • Bacterial or viral 
Clinical 
 •
Bacterial or viral Clinical ... Radicular symptoms Diagnosis ... intervertebral #Pediatrics #Peds ... #Diagnosis
Cor triatriatum
 • Epidemiology
 • Etiology
 • Associated Lesions
 • Differentials Diagnosis
 • Anatomy - Sinister,
Differentials Diagnosis ... Physiology • Clinical ... Presentation • Diagnosis ... CorTriatriatum #diagnosis ... cardiology #summary #peds
Clinical Features and Complications of Measles

Rash:
Spreads downwards, from behind the ears to the whole Of the
Clinical Features ... #Measles #Diagnosis ... Kopliks KoplikSpots #Peds