title: Atypical findings in three patients with Pai syndrome and literature review.
abstract: 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.
authors.affiliation: Center for Human Genetics, IPG, Charleroi (Gosselies), Belgium. damien.lederer@ipg.be
authors.forename: Damien
authors.initials: D
authors.lastname: Lederer
authors.forename: Brian
authors.initials: B
authors.lastname: Wilson
authors.forename: Pierre
authors.initials: P
authors.lastname: Lefesvre
authors.forename: Vincent Vander
authors.initials: VV
authors.lastname: Poorten
authors.forename: Nigel
authors.initials: N
authors.lastname: Kirkham
authors.forename: Dipayan
authors.initials: D
authors.lastname: Mitra
authors.forename: Christine
authors.initials: C
authors.lastname: Verellen-Dumoulin
authors.forename: Koenraad
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000175:diagnosis*; D001921:Brain / Q000473:pathology; D002648:Child; D002971:Cleft Lip / Q000175:diagnosis*; D003103:Coloboma / Q000175:diagnosis*; D019066:Facies; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008067:Lipoma / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D009298:Nasal Polyps / Q000175:diagnosis*; D010641:Phenotype; D012871:Skin Diseases / Q000175:diagnosis*