Premium
Early prenatal diagnosis of oculoauriculovertebral dysplasia or the Goldenhar syndrome
Author(s) -
De Catte L.,
Laubach M.,
Legein J.,
Goossens A.
Publication year - 1996
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1997.08060422.x
Subject(s) - microphthalmia , medicine , gestation , dysplasia , fetus , pregnancy , prenatal diagnosis , obstetrics , pathology , biochemistry , chemistry , genetics , biology , gene
We report a case of the sonographic detection of oculoauriculouertebral dysplasia in a fetus at 1.5 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. Copyright © 1996 International Society of Ultrasound in Obstetrics and Gynecology