EPOS

European Paediatric Ophthalmological Society

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A New Case of Ocular Abnormalities and “Apple-Peel” Intestinal Atresia with Multiple Variable Aneuploidy

Williams Christopher ¹, Bower Katherine ², Dennis Nick ², Hodgkins Peter ^1
1Southampton Eye Unit, ²Wessex Clinical genetics Service, Southampton

Purpose: To present an unusual syndrome and report some previously undescribed features. Methods: Case report presentation and review of literature. Results: A girl born to healthy parents was noted to have cloudy corneas, microphthalmia, prominent gums and severe small bowel atresia incompatible with life. Lymphocyte karyotyping of one hundred and thirty lymphocytes revealed three distinct cell lines plus a number of single cells containing extra or missing cell lines. Conclusion: Multiple variable aneuploidy (also mosaic variegated aneuploidy) is a rare cytogenetic abnormality with no distinctive phenotype. Although microphthalmia and cataracts have previously been reported as features of this condition, cloudy corneas and "apple-peel" mesentery should now be added to the phenotypical spectrum.