7. Nguyen NP, Borok tL, Welsh J, Vinh-Hung V. Safety and effectiveness of vascular endoprosthesis for malignant superior vena cava syndrome. thorax. 2009;64:174-8. 8. roels P, Vincken W, DeGreve J, Vanhaelst L. Superior vena cava syndrome caused by bening intrathoracic goiter. Acta clin Bel. 1983;38:329-32. 9. Sancho JJ, Kraimps JL, Sánchez-Blanco JM, Larrad A, rodríguez JM, Gil P, et al. incre...

DiGeorge syndrome, also termed 22q11.2 deletion syndrome, represents a spectrum of disorders that include thymic aplasia/hypoplasia, parathyroid aplasia/hypoplasia, conotruncal vascular anomalies, and velocardiofacial (Shprintzen) syndrome. This case report describes a novel constellation of cardiovascular anomalies in a 31-year-old patient with 22q11.2 deletion confirmed by fluorescence in sit...

We report a boy with truncus arteriosus, dysmorphic features, developmental delay, passing hypotonia, short segment Hirschsprung disease (HSCR), and paroxysmal hypoventilation. FISH analysis showed an interstitial deletion in chromosome band 22q11.2 coinciding with the deletions found in DiGeorge syndrome and velocardiofacial syndrome. Mutation scanning of RET, GDNF, EDNRB, and EDN3, genes asso...

The T-box gene family encodes a large family of transcription factors with more than 20 members identified in humans so far, and homologues in many other organisms. A number of human disorders have been linked to mutations in T-box genes, confirming their medical importance. They include Holt- Oram syndrome/TBX5, Ulnar-Mammary syndrome/TBX3, and more recently DiGeorge syndrome/TBX1, ACTH defici...

7. Nguyen NP, Borok TL, Welsh J, Vinh-Hung V. Safety and effectiveness of vascular endoprosthesis for malignant superior vena cava syndrome. Thorax. 2009;64:174—8. 8. Roels P, Vincken W, DeGreve J, Vanhaelst L. Superior vena cava syndrome caused by bening intrathoracic goiter. Acta Clin Bel. 1983;38:329—32. 9. Sancho JJ, Kraimps JL, Sánchez-Blanco JM, Larrad A, Rodríguez JM, Gil P, et al. Incre...

BACKGROUND Velocardiofacial syndrome (VCFS) is associated with a broad clinical spectrum that frequently overlaps the DiGeorge syndrome. Both have been linked to chromosomal microdeletions of chromosome 22 (22q11.2). DiGeorge syndrome is associated with T-cell dysfunction. What is the incidence of immune cytopenias in children with VCFS? OBJECTIVES To (1) identify, (2) characterize, (3) quant...

Dysmorphogenesis of the cardiac outflow tract (OFT) causes many congenital heart defects, including those associated with DiGeorge syndrome. Genetic manipulation in the mouse and mutational analysis in patients have shown that Tbx1, a T-box transcription factor, has a key role in the pathogenesis of this syndrome. Here, we have dissected Tbx1 function during OFT development using genetically mo...