DiGeorge syndrome associated with left lung aplasia.
We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and aplasia of the left lung. To the best of our knowledge, this is the first reported case of DiGeorge-velocardiofacial syndrome associated with unilateral lung aplasia. Gadolinium enhanced three-dimensional magnetic resonance angiography demonstrated associated right-sided aortic arch and left pulmonary artery agenesis.
Fitoz
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S
Ankara University, School of Medicine, Department of Radiology, Ibn-i Sina Hospital, 06100, Sihhiye-Ankara, Turkey.
Uçar
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T
Erden
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Günlemez
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A
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001013:Aorta, Thoracic / Q000002:abnormalities; D004062:DiGeorge Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D018810:Magnetic Resonance Angiography; D011651:Pulmonary Artery / Q000002:abnormalities