Velocardiofacial syndrome and DiGeorge sequence.

Shprintzen, Robert J.

doi:10.1136/jmg.31.5.423-b

Cited by 35 publications

(21 citation statements)

References 16 publications

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“…We tested the potential of our method to identify and localize subtle gyral anomalies, by conducting a group comparison between 12 girls affected by 22q11 Deletion Syndrome, a neurodevelopmental condition of genetic origin [33], and 12 typically developing children matched for age (girls only, mean age ). The rest of this paper is organized as follows.…”

mentioning

confidence: 99%

A Surface-Based Approach to Quantify Local Cortical Gyrification

Schaer

Cuadra

Tamarit³

et al. 2008

IEEE Trans. Med. Imaging

492

509

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Abstract-The high complexity of cortical convolutions in humans is very challenging both for engineers to measure and compare it, and for biologists and physicians to understand it. In this paper, we propose a surface-based method for the quantification of cortical gyrification. Our method uses accurate 3-D cortical reconstruction and computes local measurements of gyrification at thousands of points over the whole cortical surface. The potential of our method to identify and localize precisely gyral abnormalities is illustrated by a clinical study on a group of children affected by 22q11 Deletion Syndrome, compared to control individuals.

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mentioning

confidence: 99%

A Surface-Based Approach to Quantify Local Cortical Gyrification

Schaer

Cuadra

Tamarit³

et al. 2008

IEEE Trans. Med. Imaging

492

509

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“…DGS, VCFS, and CTAF have, by FISH studies, similar deletions of 22q11 Scambler et al, 1992]. There have been numerous clinical reports about VCFS since the first reports of its association with the 22q11 deletion and the range of clinical findings in VCFS continues to expand, recently including DGS, Robin sequence, and CHARGE syndrome [Shprintzen, 1994]. Some authors have also argued that some of the original DGS and CTAF patients 22q11 Deletions in Patients With Velopharyngeal Insufficiencyshould be reclassified as VCFS [Shprintzen, 1994;Stevens et al, 1990].…”

Section: Discussionmentioning

confidence: 92%

“…Shprintzen reported that 8% of children with cleft palate whom he studied had VCFS and all of these VCFS patients were deleted [Shprintzen et al, 1994]. However, isolated cleft palate does not seem to be highly associated with deletions of 22q11 .…”

Section: Discussionmentioning

confidence: 96%

“…There have been numerous clinical reports about VCFS since the first reports of its association with the 22q11 deletion and the range of clinical findings in VCFS continues to expand, recently including DGS, Robin sequence, and CHARGE syndrome [Shprintzen, 1994]. Some authors have also argued that some of the original DGS and CTAF patients 22q11 Deletions in Patients With Velopharyngeal Insufficiencyshould be reclassified as VCFS [Shprintzen, 1994;Stevens et al, 1990]. In essence, the various 22q11 deletion syndromes should probably be classified as a single entity as they overlap considerably and do not possess single cardinal anomalies that are pathognomonic or invariably present [McLean et al, 1993;Lipson et al, 1991;Meinecke et al, 1986].…”

Section: Discussionmentioning

confidence: 96%

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Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency

et al. 1998

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Velo-cardio-facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect are all associated with hemizygosity of 22q11. While the prevalence of the deletions in these phenotypes has been studied, the frequency of deletions in patients presenting with velopharyngeal insufficiency (VPI) is unknown. We performed fluorescence in situ hybridization for locus D22S75 within the 22q11 region on 23 patients with VPI (age range 5-42 years) followed in the Craniofacial Clinic at the University of Florida. The VPI occurred either as a condition of unknown cause (n=16) or as a condition remaining following primary cleft palate surgery (n=7). Six of sixteen patients with VPI of unknown cause and one of seven with VPI following surgery had a deletion in the region. This study documents a high frequency of 22q11 deletions in those presenting with VPI unrelated to overt cleft palate surgery and suggests that deletion testing should be considered in patients with VPI.

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“…The features of this syndrome have expanded over the past 20 years 8,9 and now comprise an overwhelming array of 185 features and associations grouped into 20 categories. 10 VCFS has an incidence of at least 1:4000, although Shprintzen estimates the birth incidence to be as high as 1:1800, making VCFS the second most common cause of congenital heart disease (after Down syndrome).…”

Section: Historical Backgroundmentioning

confidence: 99%