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

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.
AuthorsZ Ocak, H F Yazicioglu, M Aygun, M K I Ilter, T Ozlu
JournalGenetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 24 Issue 1 Pg. 1-5 ( 2013) ISSN: 1015-8146 [Print] Switzerland
PMID23610859 (Publication Type: Case Reports, Journal Article)
Topics
  • 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, diagnosis, diagnostic imaging)
  • Magnetic Resonance Imaging (methods)
  • Male
  • Nasal Polyps (diagnosis)
  • Pregnancy
  • Skin Diseases (diagnosis)
  • Skin Neoplasms (complications, diagnostic imaging)
  • Ultrasonography, Prenatal (methods)

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