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Pediatric Radiology
Published in: Pediatric Radiology 9/2014

01-09-2014 | Case Report

Pai syndrome: challenging prenatal diagnosis and management

Authors: Marie Blouet, Frédérique Belloy, Corinne Jeanne-Pasquier, Nathalie Leporrier, Guillaume Benoist

Published in: Pediatric Radiology | Issue 9/2014

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Abstract

Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome.
Literature
1.
Pai GS, Levkoff AH, Leithiser RE Jr (1987) Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps. Am J Med Genet 26:921–924PubMedCrossRef
2.
Ocak Z, Yazicioglu HF, Aygun M et al (2013) Prenatal detection of Pai syndrome without cleft lip and palate: a case report. Genet Couns 24:1–5PubMed
3.
Ickowitz V, Eurin D, Rypens F et al (2001) Prenatal diagnosis and postnatal follow-up of pericallosal lipoma: report of seven new cases. AJNR Am J Neuroradiol 22:767–772PubMed
4.
Chousta A, Ville D, James I et al (2008) Pericallosal lipoma associated with Pai syndrome: prenatal imaging findings. Ultrasound Obstet Gynecol 32:708–710PubMedCrossRef
5.
Castori M, Rinaldi R, Bianchi A et al (2007) Pai syndrome: first patient with agenesis of the corpus callosum and literature review. Birth Defects Res A Clin Mol Teratol 79:673–679PubMedCrossRef
6.
Lederer D, Wilson B, Lefesvre P et al (2012) Atypical findings in three patients with Pai syndrome and literature review. Am J Med Genet A 158:2899–2904CrossRef
7.
Szeto C, Tewfik TL, Jewer D et al (2005) Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): a case report and literature review. Int J Pediatr Otorhinolaryngol 69:1247–1252PubMedCrossRef
Metadata
Title
Pai syndrome: challenging prenatal diagnosis and management
Authors
Marie Blouet
Frédérique Belloy
Corinne Jeanne-Pasquier
Nathalie Leporrier
Guillaume Benoist
Publication date
01-09-2014
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Radiology / Issue 9/2014
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-014-2966-4

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