The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
Velo‐cardio‐facial syndrome: A review of 120 patients
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. © 1993 Wiley‐Liss, Inc.
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Cites
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Syndromes of the Head and Neck
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Self-citationHolder, S. E. (1991) · Archives of Disease in Childhood · doi:10.1136/adc.66.8.1005 · Cited by 424
Late‐Onset psychosis in the velo‐cardio‐facial syndrome
Shprintzen, R. J., Goldberg, R., Golding‐Kushner, K. J., & Marion, R. W. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320420131 · Cited by 403
Self-citationThe spectrum of the DiGeorge syndrome
Conley, M. E., Beckwith, J. B., Mancer, J. F. K., & Tenckhoff, L. (1979) · The Journal of Pediatrics · doi:10.1016/s0022-3476(79)80207-3 · Cited by 401
A deletion in chromosome 22 can cause digeorge syndrome
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The Velo-Cardio-Facial Syndrome: A Clinical and Genetic Analysis
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Regulation of microRNA biogenesis
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DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
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A Surface-Based Approach to Quantify Local Cortical Gyrification
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Neural development, cell-cell signaling, and the “two-hit” hypothesis of schizophrenia
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Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion
Gerdes, M., Solot, C., Wang, P. P., Moss, E., LaRossa, D., Randall, P., Goldmuntz, E., Clark, B. J., Driscoll, D. A., Jawad, A., et al. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990716)85:2<127::aid-ajmg6>3.0.co;2-f · Cited by 290
Metadata
- Authors
- Goldberg, R., Motzkin, B., Marion, R., Scambler, P. J., & Shprintzen, R. J.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1993-02
- Volume
- 45
- Issue
- 3
- Pages
- 313-319
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2000532324
- Cited by
- 425
- References
- 22
- FWCI
- 10.92
- Type
- journal article
- Language
- en
- Open access
- closed
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- Goldberg, R., Motzkin, B., Marion, R., Scambler, P. J., & Shprintzen, R. J. (1993). Velo‐cardio‐facial syndrome: A review of 120 patients. American Journal of Medical Genetics. https://doi.org/10.1002/ajmg.1320450307
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