In two distinct families sibs were reported with the association of partial aniridia, congenital glaucoma, telecanthus, frontal bossing, unilateral renal agenesis and mental retardation. The parents were not related, but an autosomal recessive mode of inheritance is likely. Searches for abnormality in chromosome 11p13 might be worthwhile in light of the deletion found in cases of the WAGR syndrome (Wilms tumor-Aniridia-Genitourinary anomalies -mental Retardation).
Last update: December 2004
- Dr Emmanuelle PROUST-LEMOINE