Abstract

A 2 days old full term male neonate, born to unrelated parents, is presented with bilateral corneal opacity. With the presence of clinical features such as bilateral Peters' anomaly, short stature, cleft lip and palate, typical facial features (thin upper lip, round face, low set ears, small ear pinna, broad neck, and small palpebral fissures) and congenital heart defect, we established diagnosis of Peters plus syndrome-like phenotype due absence of mutation in beta 1,3-glucosyltransferase. We report this rare case and reviewed literature. All patients with bilateral Peters' anomaly should be screened for systemic malformations.

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