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

Genet Couns. 2013;24(1):1-5.

Abstract

Pai syndrome is a rarely encountered disease characterized by findings of median cleft lip, facial skin polyps, nasal mucosal polyps and midline central nervous system lipoma. We report a case with prenatal detection of a pericallosal lipoma and a skin tag on the forehead. After delivery, the diagnosis was confirmed as a case of Pai syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adult
  • Agenesis of Corpus Callosum / diagnosis*
  • Brain / pathology
  • Cesarean Section
  • Cleft Lip / diagnosis*
  • Cleft Palate
  • Coloboma / diagnosis*
  • Diagnosis, Differential
  • Echoencephalography / methods*
  • Female
  • Humans
  • Infant, Newborn
  • Lipoma / complications
  • Lipoma / diagnosis
  • Lipoma / diagnostic imaging*
  • Magnetic Resonance Imaging / methods
  • Male
  • Nasal Polyps / diagnosis*
  • Pregnancy
  • Skin Diseases / diagnosis*
  • Skin Neoplasms / complications
  • Skin Neoplasms / diagnostic imaging*
  • Ultrasonography, Prenatal / methods*

Supplementary concepts

  • Median cleft lip, corpus callosum, lipoma, and skin polyps