Figure 1.

Clinical Phenotype of Individuals with TELO2 Variants

(A) The pedigrees of families 1–4. The TELO2 genotype segregating in each family is shown. Individual II-1 in family 4 has an unaffected paternal half-sibling (not shown).

(B) Current portraits of each affected individual.

(C) Full body pictures of affected individuals in family 1.

(D) Coronal view of chest CT angiogram of II-2 in family 1 showing an incomplete vascular ring with a right ascending aortic arch (RAoA), right common carotid artery (RCC), left common carotid artery (LCC), and descending aorta (DAo). There are also venous anomalies with a retroaortic left brachiocephalic vein (LBCv) that joins the azygous vein and enters the superior vena cava.