DiGeorge syndrome associated with left lung aplasia

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.

Left Lung Agenesis with Bicuspid Aortic Valve

“…The primary causes of pulmonary hypoplasia includes some role of TTF-1, hepatocyte nuclear factor HNF310, epidermal growth factor and its receptor (EGFR) and secondary causes includes small fetal thoracic volume, prolonged oligohydramnios, decreased fetal breathing, congenital heart diseases and trisomies 18, 13, 21 Le pulmonary agenesis is o en an isolated fi nding but recently, Di George syndrome and velo-cardiofacial syndrome have been reported in associa on with le pulmonary agenesis 9,10 . Cardiovascular anomalies are usually acyano c but rarely anomalous pulmonary venous return, tetralogy of fallot, and single ventricles are also reported.…”

Pulmonary agenesis—vascular airway compression and gastroesophageal reflux influence outcome

“…Etiology of PA and explanation for ipsilateral nature of associated anomalies remain unknown. Association of PA with velocardiofacial syndrome, DiGeorge syndrome, Goldenhar syndrome, and VACTERL sequence points toward disruption of early embryonic events [8,12,13]. Genetic factors, localized vascular insufficiency from interruption of dorsal and sixth aortic arch, and teratogenic insults, for example, vitamin A deficiency during early embryonic period, are considered important [2,5,14].…”

Unilateral Pulmonary Aplasia: A Case Report

“…There is high incidence (>50.0%) of associated cardiac, gastrointestinal, genitourinary, skeletal, central nervous system malformations and VACTERL sequence 2,3,6,8 .…”