PRENATAL-DIAGNOSIS OF OPITZ (BBB) SYNDROME IN THE 2ND TRIMESTER BY ULTRASOUND DETECTION OF HYPOSPADIAS AND HYPERTELORISM
PRENATAL-DIAGNOSIS OF OPITZ (BBB) SYNDROME IN THE 2ND TRIMESTER BY ULTRASOUND DETECTION OF HYPOSPADIAS AND HYPERTELORISM
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DOI：
10.1002/pd.1970091107
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发表时间：
1989-11-01
影响因子：
3
通讯作者：
RITCHIE, S
中科院分区：
文献类型：
--
作者：
HOGDALL, C;SIEGELBARTELT, J;RITCHIE, S
本文报告一个Opitz(BBB)综合征家系的产前诊断。该遗传符合常染色体显性遗传和X连锁遗传。家系中的异常包括：端头过长、尿道下裂、外阴不清、尿结肠瘘、肛门闭锁、智力低下、横隔疝和旋转不良伴扭转。超声检查发现1例孕19周的男性胎儿有尿道下裂和尿道下裂，较小，符合该综合征。妊娠终止后经病理检查确诊。这是第一个产前诊断Optiz综合征的报告，通过超声显示妊娠中期的前列腺增生症和尿道下裂。
Prenatal diagnosis in a kindred with the Opitz (BBB) syndrome is presented. The inheritance is consistent with either autosomal dominant inheritance with sex limited expression or X-linked inheritance. The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus. A male fetus at 19 weeks was found by ultrasound to have hypertelorism and hypospadias with a small phallus consistent with the syndrome. The diagnosis was confirmed by pathologic examination after pregnancy termination. This is the first report of prenatal diagnosis of Optiz syndrome by ultrasonographic demonstration of hypertelorism and hypospadias in the second trimester.