Atypical findings in three patients with Pai syndrome and literature review.

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.

• Authors: Damien Lederer, Brian Wilson, Pierre Lefesvre, Vincent Vander Poorten, Nigel Kirkham, Dipayan Mitra, Christine Verellen-Dumoulin, Koenraad Devriendt
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 158A Issue 11 Pg. 2899-904 (Nov 2012) ISSN: 1552-4833 [Electronic] United States
• PMID: 22987662 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright © 2012 Wiley Periodicals, Inc.

Topics

• Agenesis of Corpus Callosum (diagnosis)
• Brain (pathology)
• Child
• Cleft Lip (diagnosis)
• Coloboma (diagnosis)
• Facies
• Female
• Humans
• Infant, Newborn
• Lipoma (diagnosis)
• Magnetic Resonance Imaging
• Male
• Nasal Polyps (diagnosis)
• Phenotype
• Skin Diseases (diagnosis)