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Early prenatal diagnosis of oculoauriculovertebral dysplasia or the Goldenhar syndrome.

作者信息

De Catte L, Laubach M, Legein J, Goossens A

机构信息

Department of Obstetrics and Prenatal Diagnosis, University Hospital, Free University Brussels, Belgium.

出版信息

Ultrasound Obstet Gynecol. 1996 Dec;8(6):422-4. doi: 10.1046/j.1469-0705.1997.08060422.x.

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.

摘要

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