title: Pai syndrome: first patient with agenesis of the corpus callosum and literature review.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy. m.castori@idi.it
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Rosanna
authors.initials: R
authors.lastname: Rinaldi
authors.forename: Aurelia
authors.initials: A
authors.lastname: Bianchi
authors.forename: Aurelio
authors.initials: A
authors.lastname: Caponetti
authors.forename: Marcello
authors.initials: M
authors.lastname: Assumma
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000473:pathology*; D003337:Corpus Callosum / Q000473:pathology*; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology / Q000473:pathology; D008297:Male; D009298:Nasal Polyps / Q000209:etiology / Q000473:pathology; D013577:Syndrome