Pai syndrome: First patient with agenesis of the corpus callosum and literature review
Article first published online: 5 SEP 2007
Copyright © 2007 Wiley-Liss, Inc.
Birth Defects Research Part A: Clinical and Molecular Teratology
Volume 79, Issue 10, pages 673–679, October 2007
How to Cite
Castori, M., Rinaldi, R., Bianchi, A., Caponetti, A., Assumma, M. and Grammatico, P. (2007), Pai syndrome: First patient with agenesis of the corpus callosum and literature review. Birth Defects Research Part A: Clinical and Molecular Teratology, 79: 673–679. doi: 10.1002/bdra.20392
- Issue published online: 8 OCT 2007
- Article first published online: 5 SEP 2007
- Manuscript Accepted: 15 JUL 2007
- Manuscript Revised: 10 JUL 2007
- Manuscript Received: 8 JUN 2007
- diagnostic criteria;
- genetic counseling;
- midline cleft of the upper lip;
- congenital nasal polyp;
- Pai syndrome
Pai syndrome (PS) is a rare regional developmental defect of the face, mainly characterized by the variable association of midline cleft of the upper lip (MCL), duplicated maxillary median frenulum, and midline facial cutaneous and midanterior alveolar process polyps. Its entire clinical spectrum is still poorly delineated and the etiology remains unknown.
We describe a 1-month-old boy presenting with MCL, left nostril hamartomatous mass, midline pedunculated polyp originating from the columella base, midline alveolar cleft, duplication of the upper median frenulum, unilateral persistent papillary membrane, lipoma of the corpus callosum, and additional minor facial dysmorphism. This patient also presents with agenesis of the corpus callosum, which has never been reported in PS. Literature review was carried out comparing clinical data of the 20 previously published patients with those observed in the present case.
The minimum diagnostic criteria for PS has been fixed in one or more hamartomatous nasal polyps plus MCL (with or without cleft alveolus) and/or midanterior alveolar process congenital polyp. Additional common ancillary findings include duplicated median maxillary frenulum, hypertelorism, nasal cleft, midfrontal skin tags, and ocular and CNS structural abnormalities. However, mental retardation is only an occasional feature and seems to be related to coexisting conditions (such as chromosome imbalance). Literature review shows that PS is etiologically heterogeneous, as it may result from chromosome abnormalities and environmental/stochastic events, as well as de novo mutations. Birth Defects Research (Part A) 2007. © 2007 Wiley-Liss, Inc.