Velocardiofacial syndrome: 30 years of study

RJ Shprintzen - Developmental disabilities research reviews, 2008 - Wiley Online Library
Velo-cardio-facial syndrome is one of the names that has been … syndromes in humans. The
labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome

Velocardiofacial syndrome: A review of 120 patients

R Goldberg, B Motzkin, R Marion… - American journal of …, 1993 - Wiley Online Library
A series of earlier reports has described the velocardiofacial syndrome (VCFS), a syndrome
of multiple anomalies including cleft palate, heart malformations, facial characteristics, …

Velo-cardio-facial syndrome

RJ Shprintzen, AM Higgins, K Antshel… - Current opinion in …, 2005 - journals.lww.com
Its high population prevalence, estimated to be as common as 1: 2000 has sparked a large
amount of research, as has the model the syndrome serves for identifying the causes of …

The velo-cardio-facial syndrome: a clinical and genetic analysis

RJ Shprintzen, RB Goldberg, D Young, L Wolford - Pediatrics, 1981 - publications.aap.org
… and female patients so that even though X-linked dominant transmission is possible, the
velo-cardio-facial syndrome is likely to be an autosomal dominant recurrent pattern syndrome. …

Schizophrenia and velo-cardio-facial syndrome

KC Murphy - The Lancet, 2002 - thelancet.com
… genetic syndrome velo-cardio-facial syndrome (VCFS) has also been linked with high rates
of schizophrenia. VCFS, also known as DiGeorge syndrome or 22q11 deletion syndrome, is …

Velocardiofacial syndrome: A distinctive behavioral phenotype

RJ Shprintzen - Mental retardation and developmental …, 2000 - Wiley Online Library
Velo-cardio-facial syndrome (VCFS) is the most common contiguous gene disorder and one
… anomaly syndromes in humans. Over 180 anomalies have been delineated in the syndrome

Intellectual abilities in a large sample of children with velocardiofacial syndrome: an update

B De Smedt, K Devriendt, JP Fryns… - Journal of …, 2007 - Wiley Online Library
… of the most consistently reported features in VeloCardioFacial Syndrome (VCFS). Earlier
… In addition, we aimed to identify factors that may contribute to within-syndrome variability in …

Brain anomalies in velocardiofacial syndrome

RJ Mitnick, JA Bello… - American journal of …, 1994 - Wiley Online Library
velo-cardio-facial syndrome. The behavioral profiles of the patients will be related to the brain
findings. … The diagnosis of velo-cardio-facial syndrome was unknown to the psychologist or …

Velocardiofacial syndrome: Frequency and extent of 22q1l deletions

EA Lindsay, R Goldberg, V Jurecic… - American journal of …, 1995 - Wiley Online Library
Velocardiofacial. (VCFS) or Shprintzen syndrome is associated with deletions in a region
of chromosome 22q11.2 also deleted in DiGeorge anomaly and some forms of congenital …

Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders.

C Carlson, D Papolos, RK Pandita… - American journal of …, 1997 - ncbi.nlm.nih.gov
Velo-cardio-facial syndrome (VCFS) is characterized by conotruncal cardiac defects, cleft
palate, learning disabilities, and characteristic facial appearance and is associated with …