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.
Atypical findings in three patients with Pai syndrome and literature review†
Article first published online: 17 SEP 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, pages 2899–2904, November 2012
How to Cite
Lederer, D., Wilson, B., Lefesvre, P., Poorten, V. V., Kirkham, N., Mitra, D., Verellen-Dumoulin, C. and Devriendt, K. (2012), Atypical findings in three patients with Pai syndrome and literature review. Am. J. Med. Genet., 158A: 2899–2904. doi: 10.1002/ajmg.a.35592
- Issue published online: 17 OCT 2012
- Article first published online: 17 SEP 2012
- Manuscript Accepted: 2 JUL 2012
- Manuscript Received: 9 MAY 2012
- Fonds Marguerite-Marie Delacroix
- Pai syndrome;
- peri-callosal lipoma;
- triangular temporal alopecia;
- true tracheal bronchus;
- posterior lenticonus;
- bifid uvula;
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.