Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome.

Abstract

The authors report a girl with short stature, goniodysgenesis, bilateral iridochorio-retinal coloboma, associated with facial and acral anomalies, and borderline intelligence. Anterior chamber defect and face dysmorphism are in accordance with the diagnosis of Rieger syndrome. Some features are reminiscent of the CHARGE association. Coloboma, abnormal ears… (More)

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