Literature DB >> 24748063

Pai syndrome: challenging prenatal diagnosis and management.

Marie Blouet1, Frédérique Belloy, Corinne Jeanne-Pasquier, Nathalie Leporrier, Guillaume Benoist.   

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.

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Year:  2014        PMID: 24748063     DOI: 10.1007/s00247-014-2966-4

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  7 in total

Review 1.  Atypical findings in three patients with Pai syndrome and literature review.

Authors:  Damien Lederer; Brian Wilson; Pierre Lefesvre; Vincent Vander Poorten; Nigel Kirkham; Dipayan Mitra; Christine Verellen-Dumoulin; Koenraad Devriendt
Journal:  Am J Med Genet A       Date:  2012-09-17       Impact factor: 2.802

Review 2.  Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): a case report and literature review.

Authors:  Chris Szeto; Ted L Tewfik; David Jewer; Arthur Rideout
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2005-09       Impact factor: 1.675

3.  Prenatal diagnosis and postnatal follow-up of pericallosal lipoma: report of seven new cases.

Authors:  V Ickowitz; D Eurin; F Rypens; P Sonigo; I Simon; P David; F Brunelle; F E Avni
Journal:  AJNR Am J Neuroradiol       Date:  2001-04       Impact factor: 3.825

4.  Prenatal detection of Pai syndrome without cleft lip and palate: a case report.

Authors:  Z Ocak; H F Yazicioglu; M Aygun; M K I Ilter; T Ozlu
Journal:  Genet Couns       Date:  2013

5.  Pericallosal lipoma associated with Pai syndrome: prenatal imaging findings.

Authors:  A Chousta; D Ville; I James; P Foray; C Bisch; P Depardon; R-C Rudigoz; L Guibaud
Journal:  Ultrasound Obstet Gynecol       Date:  2008-10       Impact factor: 7.299

6.  Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps.

Authors:  G S Pai; A H Levkoff; R E Leithiser
Journal:  Am J Med Genet       Date:  1987-04

Review 7.  Pai syndrome: first patient with agenesis of the corpus callosum and literature review.

Authors:  Marco Castori; Rosanna Rinaldi; Aurelia Bianchi; Aurelio Caponetti; Marcello Assumma; Paola Grammatico
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2007-10
  7 in total
  3 in total

1.  Pre- and postnatal imaging of Pai syndrome with spontaneous intrauterine closure of a frontal cephalocele.

Authors:  Tomas Dobrocky; Lukas Ebner; Benjamin Liniger; Christian Weisstanner; Enno Stranzinger
Journal:  Pediatr Radiol       Date:  2014-10-31

2.  Lipoma of Columella with septal extension in Pai syndrome: report of a rare case.

Authors:  Surendra B Patil; Shree Harsh
Journal:  BMC Ear Nose Throat Disord       Date:  2017-02-06

Review 3.  Pai syndrome: a review.

Authors:  Francesca Olivero; Thomas Foiadelli; Sabino Luzzi; Gian Luigi Marseglia; Salvatore Savasta
Journal:  Childs Nerv Syst       Date:  2020-07-10       Impact factor: 1.475

  3 in total

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