Heart Murmurs – Differential Diagnosis, Examination and Investigations
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Blueberry muffin syndrome
👉 a skin appearance seen in pediatric patients with multiple raised cutaneous, classically blue/purple lesions which is due to extramedullary hematopoiesis in the dermis
👉 a skin appearance seen in pediatric patients with multiple raised cutaneous, classically blue/purple lesions which is due to extramedullary hematopoiesis in the dermis
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DiGeorge syndrome
Also called: 22q11.2 deletion syndrome
CXR AP shows a very narrow superior mediastinum
while on the lateral view the anterior mediastinum appears empty.
The diagnosis was an absent thymus due to DiGeorge syndrome
Also called: 22q11.2 deletion syndrome
CXR AP shows a very narrow superior mediastinum
while on the lateral view the anterior mediastinum appears empty.
The diagnosis was an absent thymus due to DiGeorge syndrome
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