Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome.
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, grooved palate, elbow pronosupination and hand bones anomalies are related to the Abruzzo-Erikson syndrome. The authors postulate that their propositus may represent a new occurrence of the latter syndrome, and they propose to widen the actual definition of Abruzzo-Erikson syndrome to the association of goniodysgenesis, coloboma, abnormal ears and upper limb anomalies.
Verloes
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Center for Human Genetics, Liège State University, Belgium.
Dodinval
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D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D000867:Anterior Chamber / Q000002:abnormalities; D002675:Child, Preschool; D002972:Cleft Palate / Q000150:complications; D003103:Coloboma / Q000150:complications; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007429:Intraocular Pressure; D007498:Iris / Q000002:abnormalities*; D009798:Ocular Hypertension / Q000601:surgery; D012160:Retina / Q000002:abnormalities*; D013577:Syndrome