DiGeorge syndrome associated with left lung aplasia

Br J Radiol. 2001 Aug;74(884):764-6. doi: 10.1259/bjr.74.884.740764.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Aorta, Thoracic / abnormalities
  • DiGeorge Syndrome / diagnosis*
  • Female
  • Humans
  • Infant, Newborn
  • Lung / abnormalities*
  • Magnetic Resonance Angiography
  • Pulmonary Artery / abnormalities