4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... , sleep apnea, cor ... 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
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... , vomiting • Late ... #genetics #endocrinology ... #peds #pediatrics
On the left a chest film of a 19 year old patient with Langerhans cell histiocytosis.
The
This is late stage ... most challenging differential ... the central dot sign ... #Clinical #Radiology ... #CXR #CTChest #
Peripartum Cardiomyopathy (PPCM)

What is PPCM?
• A form of acute systolic heart failure that develops late in
Key Point: High clinical ... Susceptibility • Genetic ... , selenium) Differential ... congestion on a CXR ... Cardiomyopathy #Cardiology