Abstract
BackgroundWilliams-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 presentationA 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.ConclusionsA 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.
Highlights
Williams-Beuren syndrome is characterized by mild mental retardation, specific neurocognitive profile, hypercalcemia during infancy, distinctive facial features and cardiovascular diseases
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
Summary
Unilateral Peters’ anomaly and cleft palate were diagnosed in a patient with classical sporadic Williams-Beuren syndrome. Arguments in favor of the latter are the unilaterality of the Peters’ anomaly, as well as, the fact that numerous patients with deletions of comparable or microscopically visible size have not shown similar manifestations. Consent Written informed consent was obtained from the mother of the patient for publication of this Case Report and the accompanying images. Competing interests The authors declare that we have no competing interests. Authors’ contributions MGT conceived of the study and is responsible for the content and for writing the paper. MG, PM and RJAC participated in the design of the study and helped to draft the manuscript. MG, PM and AMPW critically revised the manuscript. All authors read and approved the final manuscript
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