In 1965 DiGeorge described a patient with hypoparathyroidism and cellular immune deficiency secondary to thymic hypoplasia. Soon the pattern of malformation included in this syndrome expanded to include other defects of third and fourth branchial arches as well as dysmorphic facial features. In 1978 Shprintzen reported a group of children with cleft palate or velopharyngeal incompetence, cardia...

BACKGROUND Mutations in the genes for transforming growth factor-beta receptor (TGFBR) have been identified in patients with Marfan syndrome (MFS) and Marfan-like connective tissue disorders. There are several syndromes associated with mutations in TGFBR genes, including Loeys-Dietz syndrome (LDS), MFS2, Furlong syndrome, and Shprintzen-Goldberg syndrome. However, with the exception of the firs...

In 1965 DiGeorge described a patient with hypoparathyroidism and cellular immune deficiency secondary to thymic hypoplasia. Soon the pattern of malformation included in this syndrome expanded to include other defects of third and fourth branchial arches as well as dysmorphic facial features. In 1978 Shprintzen reported a group of children with cleft palate or velopharyngeal incompetence, cardia...

Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these children represents the Goldberg-Shprintzen syndrome (OMIM 235730). Mutation scanni...

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...

The Blueprint Genetics Aorta Panel is an efficient genetic diagnostic tool targeted for aortic dilatation and aortic aneurysm diseases. The Aorta Panel covers 18 genes associated with non-syndromic and syndromic aortic disease. Most of the aortic aneurysms associate to non-syndromic dilatation. However, at least 20% of aortic aneurysms are in context of syndromic diseases such as Marfan syndrom...

In 1965 DiGeorge described a patient with hypoparathyroidism and cellular immune deficiency secondary to thymic hypoplasia. Soon the pattern of malformation included in this syndrome expanded to include other defects of third and fourth branchial arches as well as dysmorphic facial features. In 1978 Shprintzen reported a group of children with cleft palate or velopharyngeal incompetence, cardia...