Velo-cardio-facial syndrome

A review of 120 patients

R. Goldberg, B. Motzkin, Robert W. Marion, P. J. Scambler, R. J. Shprintzen

Research output: Contribution to journalArticle

348 Citations (Scopus)

Abstract

A series of earlier reports has described the velo-cardio-facial syndrome (VCFS), a syndrome of multiple anomalies including cleft palate, heart malformations, facial characteristics, and learning disabilities. The patients reported previously were primarily ascertained from a craniofacial program at a large tertiary medical center. Recent reports, including a companion paper in this issue, suggest that this common syndrome of clefting is also a common syndrome of congenital heart defect (CHD) which is expressed as familial examples of DiGeorge sequence. Appreciation of more severely affected cases of VCFS and the detection of mild expressions have led to a broadening of the phenotypic spectrum of the syndrome. The purpose of this report is to describe the full spectrum of VCFS, including several new manifestations and to compare the VCFS phenotype with published cases of 'familial DiGeorge sequence' which are now thought to represent examples of VCFS.

Original languageEnglish (US)
Pages (from-to)313-319
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume45
Issue number3
DOIs
StatePublished - 1993

Fingerprint

DiGeorge Syndrome
Congenital Heart Defects
Learning Disorders
Cleft Palate
Phenotype

Keywords

  • cardiac defect
  • cleft palate
  • cleft palate
  • congenital heart anomalies
  • conotruncal anomaly face syndrome
  • DiGeorge sequence
  • monosomy 22q11
  • psychiatric disorders
  • velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Velo-cardio-facial syndrome : A review of 120 patients. / Goldberg, R.; Motzkin, B.; Marion, Robert W.; Scambler, P. J.; Shprintzen, R. J.

In: American Journal of Medical Genetics, Vol. 45, No. 3, 1993, p. 313-319.

Research output: Contribution to journalArticle

Goldberg, R, Motzkin, B, Marion, RW, Scambler, PJ & Shprintzen, RJ 1993, 'Velo-cardio-facial syndrome: A review of 120 patients', American Journal of Medical Genetics, vol. 45, no. 3, pp. 313-319. https://doi.org/10.1002/ajmg.1320450307
Goldberg, R. ; Motzkin, B. ; Marion, Robert W. ; Scambler, P. J. ; Shprintzen, R. J. / Velo-cardio-facial syndrome : A review of 120 patients. In: American Journal of Medical Genetics. 1993 ; Vol. 45, No. 3. pp. 313-319.
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