The history of Velo-cardio-facial and DiGeorge syndrome
The history of Velo-cardio-facial and DiGeorge syndromes, includes the following discoveries:
•In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following:
◦hypoparathyroidism (under active parathyroid gland), which results in hypocalcemia (low blood calcium levels)
◦hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system
◦conotruncal heart defects (e.g., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings)
◦cleft lip and/or palate
more information on VCFS.