title: First-trimester three-dimensional ultrasonographic findings in a fetus with frontonasal malformation.
abstract: A case of a frontonasal malformation observed during the first trimester with three-dimensional ultrasonography and fetoscopy is reported. Absence of the nasal bone and a poorly characterized nose were visualized at 11 5/7 weeks by two-dimensional ultrasonography. Rendered three-dimensional ultrasound images revealed absence of the nasal bridge, widely spaced frontal bones and hypertelorism. Fetoscopy, performed at 12 3/7 weeks, confirmed the hypertelorism and showed a broad translucent nose with a flat nasal bridge. The final diagnosis of frontonasal malformation was made at autopsy after pregnancy termination. A review of prenatally diagnosed cases as well as the various syndromes having frontonasal malformation as a common denominator is presented.
authors.affiliation: Perinatology Research Branch, NICHD, NIH, DHHS, Detriot, MI 48201, USA.
authors.forename: E
authors.initials: E
authors.lastname: Sleurs
authors.forename: L F
authors.initials: LF
authors.lastname: Gonçalves
authors.forename: A
authors.initials: A
authors.lastname: Johnson
authors.forename: J
authors.initials: J
authors.lastname: Espinoza
authors.forename: P
authors.initials: P
authors.lastname: Devers
authors.forename: T
authors.initials: T
authors.lastname: Chaiworapongsa
authors.forename: R
authors.initials: R
authors.lastname: Romero
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000196:embryology*; D000328:Adult; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D006972:Hypertelorism / Q000000981:diagnostic imaging / Q000196:embryology; D021621:Imaging, Three-Dimensional; D009295:Nasal Bone / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal