ArticleClinical case reports2016
Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.
Article in Clinical case reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Williams-Beuren syndrome in diverse populations.American journal of medical genetics. Part A · 2018Pooled it
- Williams-Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion.BMJ case reports · 2024Article
- In individuals with Williams syndrome, dysregulation of methylation in non-coding regions of neuronal and oligodendrocyte DNA is associated with pathology and cortical development.Molecular psychiatry · 2023Article
- A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features.Turkish archives of pediatrics · 2023Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?Pediatric research · 2021Review
- A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.American journal of medical genetics. Part A · 2018Article
- Computer-Aided Recognition of Facial Attributes for Fetal Alcohol Spectrum Disorders.Pediatrics · 2017Article
- Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.Clinical case reports · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with Williams-Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on a Congolese boy with typical WBS facial characteristics. He suffered meningitis and coma at the age of 2 years then subsequently presented with profound intellectual disability and atypical behavior. The WBS was only made at age 8.2 years and confirmed with FISH testing and microarray-CGH. The present report aims to warn clinicians that infections may associate and/or modify a genetic disease as this may be observed in developing countries given the prevalence of infectious diseases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.