Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.

ABSTRACT:

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

SUBMITTER: Todorova MG 

PROVIDER: S-EPMC4031488 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature