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Article Abstract
Generalized arterial calcification of infancy (GACI) is a rare genetic condition with varied clinical presentation. Consequently, diagnosis is frequently delayed or missed. GACI has a poor prognosis, with more than half of patients dying before the age of 6 months. Early diagnosis and treatment with bisphosphonates have been shown to improve survival in these patients. This is a case report of a newborn with respiratory distress who was initially diagnosed with coarctation of the aorta at echocardiography. Further imaging with CT revealed the aortic narrowing to be associated with GACI. Genetic Defects, Congenital, Vascular, Calcification/Calculi, Aorta, Pulmonary Arteries, CT Angiography, Echocardiography, Pediatrics © RSNA, 2024.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11211934 | PMC |
| http://dx.doi.org/10.1148/ryct.230403 | DOI Listing |
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