title: Pre- and postnatal imaging of Pai syndrome with spontaneous intrauterine closure of a frontal cephalocele.
abstract: Pai syndrome is a rare congenital disorder characterized by cutaneous polyps of the face, pericallosal lipoma and median cleft lip. We report on a newborn girl with a variant of Pai syndrome presenting with all typical findings except a median cleft. In addition, fetal sonography and MRI showed the unique intrauterine evolution of a cephalocele into an atretic cephalocele.
authors.affiliation: Department of Interventional, Pediatric and Diagnostic Radiology, Inselspital University Hospital, University of Bern, Freiburgstrasse 10, 3010, Bern, Switzerland, tomas.dobrocky@insel.ch.
authors.forename: Tomas
authors.initials: T
authors.lastname: Dobrocky
authors.forename: Lukas
authors.initials: L
authors.lastname: Ebner
authors.forename: Benjamin
authors.initials: B
authors.lastname: Liniger
authors.forename: Christian
authors.initials: C
authors.lastname: Weisstanner
authors.forename: Enno
authors.initials: E
authors.lastname: Stranzinger
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D002971:Cleft Lip / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D003103:Coloboma / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008067:Lipoma / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D008279:Magnetic Resonance Imaging; D009298:Nasal Polyps / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D011247:Pregnancy; D012871:Skin Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D016216:Ultrasonography, Prenatal