Atypical findings in three patients with Pai syndrome and literature review

Authors


  • How to Cite this Article: Lederer D, Wilson B, Lefesvre P, Vander Poorten V, Kirkham N, Mitra D, Verellen-Dumoulin C, Devriendt K. 2012. Atypical findings in three patients with Pai syndrome and literature review. Am J Med Genet Part A 158A: 2899–2904.

Abstract

Pai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and epilepsy. Thirty-three cases of Pai syndrome have been described so far. We present a review of the previously reported cases and suggest modified diagnostic criteria for Pai syndrome. © 2012 Wiley Periodicals, Inc.

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