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Updated: Nov 4, 2025
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Minor dysmorphic features in a patient with papillorenal syndrome: A Case Report
Ferit Kulali1, Ahmet Yagmur Bas2, Fatma Iyigun Guzel2
1Dr. Behcet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Turkey.
Abstract:
Papillorenal syndrome, also known as renal coloboma syndrome, is characterised by congenital optic disc anomalies and renal abnormalities. Mutations in the PAX2 gene, which plays a critical role in embryogenesis, cause this syndrome. Other related anomalies are less commonly observed. To our knowledge, this is the first case reported in the literature in which Papillorenal syndrome accompanied various dysmorphic features.
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