title: 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.
authors.affiliation: Department of Medical Genetics, Suleymaniye Maternity Hospital for Research and Training, Istanbul, Turkey. zeynep_ipek@yahoo.com
authors.forename: Z
authors.initials: Z
authors.lastname: Ocak
authors.forename: H F
authors.initials: HF
authors.lastname: Yazicioglu
authors.forename: M
authors.initials: M
authors.lastname: Aygun
authors.forename: M K I
authors.initials: MK
authors.lastname: Ilter
authors.forename: T
authors.initials: T
authors.lastname: Ozlu
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D061085:Agenesis of Corpus Callosum / Q000175:diagnosis*; D001921:Brain / Q000473:pathology; D002585:Cesarean Section; D002971:Cleft Lip / Q000175:diagnosis*; D002972:Cleft Palate; D003103:Coloboma / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004453:Echoencephalography / Q000379:methods*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008067:Lipoma / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009298:Nasal Polyps / Q000175:diagnosis*; D011247:Pregnancy; D012871:Skin Diseases / Q000175:diagnosis*; D012878:Skin Neoplasms / Q000150:complications / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal / Q000379:methods*