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Pai syndrome: a review.

Francesca Olivero1,2, Thomas Foiadelli3,4, Sabino Luzzi4,5

  • 1Department of Pediatrics, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. francescaolivero31@gmail.com.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|July 12, 2020
PubMed
Summary

Pai syndrome is a rare developmental condition with midline craniofacial abnormalities. Improved awareness and multidisciplinary follow-up are crucial for diagnosing and managing this condition.

Keywords:
Cleft lipCorpus callosum lipomaFacial polypFrontonasal dysplasiaNasal polypPai syndrome

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Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Pai syndrome is a rare idiopathic developmental condition.
  • Characterized by midline craniofacial abnormalities, including cleft lip, nasal and facial polyps, and CNS lipomas.
  • Significant phenotypical variability exists, with not all classic features always present.

Purpose of the Study:

  • To review and analyze existing evidence on Pai syndrome.
  • To better delineate the features of this rare condition.

Main Methods:

  • PubMed database search.
  • Keywords included "Pai syndrome", "frontonasal dysplasia", "cleft lip", "nasal polyp", "facial polyp", and "corpus callosum lipoma".
  • Included reviews, case reports, and case series.

Main Results:

  • No established diagnostic criteria for Pai syndrome currently exist.
  • Incidence is likely underestimated, with diagnosis typically occurring at birth.
  • Etiology remains unknown, with limited data on genetic background.

Conclusions:

  • Improved awareness of Pai syndrome is needed for timely diagnosis and investigation.
  • Patients require a multidisciplinary follow-up approach.
  • Further research is necessary to elucidate the genetic basis and establish diagnostic criteria.