ArticleJournal of medical genetics1997
Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed.
- Lessons Learned from CNV Analysis of Major Birth Defects.International journal of molecular sciences · 2020Review
- Velo-cardio-facial syndrome: 30 Years of study.Developmental disabilities research reviews · 2008Review
- Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients.Pediatric surgery international · 2006Article
- Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.American journal of human genetics · 2003Article
- Microdeletion 22q11 and oesophageal atresia.Journal of medical genetics · 1999Article
- Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.Journal of medical genetics · 1997Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report three cases of velocardiofacial syndrome (VCFS) with anal anomalies who have deletions of the 22q11 region and a further case where the proband has VCFS clinically and her father has an anal anomaly. It is important to consider VCFS in the differential diagnosis of children with anal anomalies and to look for other features of the syndrome, such as asymmetrical crying facies, submucous cleft of the palate, developmental delay, cardiac anomalies, and hypoparathyroidism.
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Registered trials
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