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DiGeorge syndrome associated with left lung aplasia

¹Ankara University, School of Medicine, Department of Radiology, bn-i Sina Hospital, 06100, Sihhiye-Ankara and ²Ankara University, School of Medicine, Department of Pediatrics, 06100, Cebeci-Ankara, Turkey

Correspondence: Suat Fitoz, MD, Atatürk Sitesi, Hayri Cecen S., 29/12, 06450 Or-An Ankara, Turkey

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.

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