Title: Atypical findings in three patients with Pai syndrome and literature review
Authors: Lederer, Damien ×
Wilson, Brian
Lefesvre, Pierre
Vander Poorten, Vincent
Kirkham, Nigel
Mitra, Dipayan
Verellen-Dumoulin, Christine
Devriendt, Koenraad #
Issue Date: Nov-2012
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics A vol:158A issue:11 pages:2899-2904
Article number: 10.1002/ajmg.a.35592
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.
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Head and Neck Oncology (+)
× corresponding author
# (joint) last author

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