ArticleMolecular syndromology2014
Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon.
Article in Molecular syndromology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Williams-Beuren syndrome in diverse populations.American journal of medical genetics. Part A · 2018Pooled it
- 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
- Perspectives on the future of dysmorphology.American journal of medical genetics. Part A · 2023Article
- Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2023Review
- The genetic determinants of oral diseases in Africa: The gaps should be filled.Frontiers in oral health · 2022Review
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- Noonan Syndrome in South Africa: Clinical and Molecular Profiles.Frontiers in genetics · 2019Article
- Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Review
- An electronic atlas of human malformation syndromes in diverse populations.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.Clinical case reports · 2016Article
- Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso.Pediatric reports · 2015Article
- Medical genetics and genomic medicine in Rwanda.Molecular genetics & genomic medicine · 2015Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Williams-Beuren syndrome (WBS) is a rare neurodevelopmental condition caused by a recurrent chromosomal microdeletion involving about 28 contiguous genes at 7q11.23. Most patients display a specific congenital heart defect, characteristic facial features, a particular behavior, and intellectual disability. Cases from sub-Saharan Africa have been seldom reported. The present study describes 3 Cameroonian patients affected by WBS, aged 19 months, 13 and 14 years, in whom the diagnosis was confirmed by fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH). The first patient presented with a congenital heart defect, the second and third with learning difficulties as well as developmental and behavioral issues. In the latter 2 cases, the facial phenotypes were similar to those of the unaffected population with the same ethnic background. However, the cardiovascular anomalies and friendly behavioral attitudes led to suspicion of WBS. FISH revealed the deletion of the WBS critical region in the first patient, and array-CGH detected a heterozygous ∼1.4-Mb deletion in the 7q11.23 region in the second and third patient. This preliminary report suggests that for sub-Saharan Africans clinical suspicion of WBS could be mostly based on behavioral phenotype and structural heart defects, and less on the classical facial dysmorphic signs.
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