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Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature
BACKGROUND: Williams-Beuren syndrome is characterized by mild mental retardation, specific neurocognitive profile, hypercalcemia during infancy, distinctive facial features and cardiovascular diseases. We report on complete ophthalmologic, sonographic and genetic evaluation of a girl with a clinical...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4031488/ https://www.ncbi.nlm.nih.gov/pubmed/24885071 http://dx.doi.org/10.1186/1471-2415-14-70 |
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author | Todorova, Margarita G Grieshaber, Matthias C Cámara, Rafael JA Miny, Peter Palmowski-Wolfe, Anja M |
author_facet | Todorova, Margarita G Grieshaber, Matthias C Cámara, Rafael JA Miny, Peter Palmowski-Wolfe, Anja M |
author_sort | Todorova, Margarita G |
collection | PubMed |
description | BACKGROUND: Williams-Beuren syndrome is characterized by mild mental retardation, specific neurocognitive profile, hypercalcemia during infancy, distinctive facial features and cardiovascular diseases. We report on complete ophthalmologic, sonographic and genetic evaluation of a girl with a clinical phenotype of Williams-Beuren syndrome, associated with unilateral anterior segment dysgenesis and bilateral cleft of the soft and hard palate. These phenotypic features have not been linked to the haploinsufficiency of genes involved in the microdeletion. CASE PRESENTATION: A term born girl presented at the initial examination with clouding of the right cornea. On ultrasound biomicroscopy the anterior chamber structures were difficult to differentiate, showing severe adhesions from the opacified cornea to the iris with a kerato-irido-lenticular contact to the remnant lens, a finding consistent with Peters' anomaly. Genetic analyses including FISH confirmed a loss of the critical region 7q11.23, usually associated with the typical Williams-Beuren syndrome. Microsatellite analysis showed a loss of about 2.36 Mb. CONCLUSIONS: A diagnosis of Williams-Beuren syndrome was made based on the microdeletion of 7q11.23. The unique features, including unilateral microphthalmia and anterior segment dysgenesis, were unlikely to be caused by the microdeletion. Arguments in favor of the latter are unilateral manifestation, as well as the fact that numerous patients with deletions of comparable or microscopically visible size have not shown similar manifestations. |
format | Online Article Text |
id | pubmed-4031488 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-40314882014-05-24 Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature Todorova, Margarita G Grieshaber, Matthias C Cámara, Rafael JA Miny, Peter Palmowski-Wolfe, Anja M BMC Ophthalmol Case Report BACKGROUND: Williams-Beuren syndrome is characterized by mild mental retardation, specific neurocognitive profile, hypercalcemia during infancy, distinctive facial features and cardiovascular diseases. We report on complete ophthalmologic, sonographic and genetic evaluation of a girl with a clinical phenotype of Williams-Beuren syndrome, associated with unilateral anterior segment dysgenesis and bilateral cleft of the soft and hard palate. These phenotypic features have not been linked to the haploinsufficiency of genes involved in the microdeletion. CASE PRESENTATION: A term born girl presented at the initial examination with clouding of the right cornea. On ultrasound biomicroscopy the anterior chamber structures were difficult to differentiate, showing severe adhesions from the opacified cornea to the iris with a kerato-irido-lenticular contact to the remnant lens, a finding consistent with Peters' anomaly. Genetic analyses including FISH confirmed a loss of the critical region 7q11.23, usually associated with the typical Williams-Beuren syndrome. Microsatellite analysis showed a loss of about 2.36 Mb. CONCLUSIONS: A diagnosis of Williams-Beuren syndrome was made based on the microdeletion of 7q11.23. The unique features, including unilateral microphthalmia and anterior segment dysgenesis, were unlikely to be caused by the microdeletion. Arguments in favor of the latter are unilateral manifestation, as well as the fact that numerous patients with deletions of comparable or microscopically visible size have not shown similar manifestations. BioMed Central 2014-05-21 /pmc/articles/PMC4031488/ /pubmed/24885071 http://dx.doi.org/10.1186/1471-2415-14-70 Text en Copyright © 2014 Todorova et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Todorova, Margarita G Grieshaber, Matthias C Cámara, Rafael JA Miny, Peter Palmowski-Wolfe, Anja M Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature |
title | Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature |
title_full | Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature |
title_fullStr | Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature |
title_full_unstemmed | Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature |
title_short | Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature |
title_sort | anterior segment dysgenesis associated with williams-beuren syndrome: a case report and review of the literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4031488/ https://www.ncbi.nlm.nih.gov/pubmed/24885071 http://dx.doi.org/10.1186/1471-2415-14-70 |
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