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Diagnostic criteria in Pai syndrome: results of a case series and a literature review

Abstract : Pai syndrome was originally described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present with the full triad, and most exhibit a wide spectrum of phenotypic variability. The aim of this study was to phenotypically delineate Pai syndrome and to propose new criteria to facilitate a clinical diagnosis in the future. The study cohort consisted of seven case patients and an additional 60 cases diagnosed with Pai syndrome identified in a literature review. Only 23 of 67 patients presented the full triad as historically described by Pai et al. (1987). A congenital facial midline skin mass was always encountered, particularly affecting the nasal structures (60/67). A midline facial cleft was reported in 45 of 67 patients and a pericallosal lipoma in 42 of 67 patients. The proposed definition of Pai syndrome is the association of (1) a congenital nasal and/or mediofrontal skin mass and/or a mid-anterior alveolar process polyp as a mandatory criterion, and at least one of the following criteria: (2) midline cleft lip and/or midline alveolar cleft, and/or (3) a pericallosal lipoma or interhemispheric lipoma in the case of corpus callosum dysgenesis.
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Contributeur : Lnc - Université de Bourgogne <>
Soumis le : vendredi 7 décembre 2018 - 17:06:21
Dernière modification le : mardi 29 juin 2021 - 03:23:48


  • HAL Id : hal-01948492, version 1
  • PUBMED : 30195458


Anne Morice, Eva Galliani, Jeanne Amiel, Martin Rachwalski, Cecilia Neiva, et al.. Diagnostic criteria in Pai syndrome: results of a case series and a literature review. International Journal of Oral and Maxillofacial Surgery, Elsevier, In press. ⟨hal-01948492⟩



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