title: Early prenatal diagnosis of oculoauriculovertebral dysplasia or the Goldenhar syndrome.
abstract: We report a case of the sonographic detection of oculoauriculovertebral dysplasia in a fetus at 15 weeks' gestation. An early diagnosis was suggested by observation of a maxillar cleft in association with unilateral microphthalmia. In the presence of microphthalmia the syndrome is likely to include mental retardation. When the diagnosis is made in the perinatal period, management generally involves cosmetic surgery. If, however, the condition is recognized in the early stages of gestation, termination of pregnancy may be an option.
authors.affiliation: Department of Obstetrics and Prenatal Diagnosis, University Hospital, Free University Brussels, Belgium.
authors.forename: L
authors.initials: L
authors.lastname: De Catte
authors.forename: M
authors.initials: M
authors.lastname: Laubach
authors.forename: J
authors.initials: J
authors.lastname: Legein
authors.forename: A
authors.initials: A
authors.lastname: Goossens
mesh_terms: D000328:Adult; D005260:Female; D005865:Gestational Age; D006053:Goldenhar Syndrome / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D011262:Pregnancy Trimester, Second; D011859:Radiography; D016216:Ultrasonography, Prenatal