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. 2015 Oct 21;17:17–23. doi: 10.1007/s10048-015-0462-0

Table 1.

Clinical evaluation of affected family members with Axenfeld–Rieger syndrome

Affected family members V:1 V:2 VI:3 VI:5
Current age (years) 55 60 10 20
Gender F M M F
Eye
Iris dysplasia (goniodysgenesis) + + + +
Iris hypoplasia + + + +
Glaucoma + + + +
Early development of nuclear cataract +
Polycoria + +
Corectopia (displaced pupils) + + + +
Megacornea +
Cataract +
Telecanthus + +
Vitreous condensation + + + +
Ear
Abnormal ear, hearing defect + +
Nose
Broad nasal bridge + + + +
Teeth
Microdontia + +
Micrognathia + + +
Abdomen
Umbilical defect (redundant periumbilical skin) + + +
Joints
Congenital hip anomalies + +