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[Infantile spasms in monozygotic twins with Smith-Lemli-Opitz syndrome type I].

作者信息

Itokazu N, Ohba K, Sonoda T, Ohdo S

机构信息

Department of Pediatrics, Miyazaki Medical College.

出版信息

No To Hattatsu. 1992 Sep;24(5):485-90.

PMID:1389333
Abstract

Monozygotic twins with Smith-Lemli-Opitz syndrome who developed infantile spasms were presented. They were the result of the first full-term pregnancy of non-consanguineous parents. They had following abnormalities: marked growth and developmental retardation, congenital heart disease, light brown hair which is rare in Japanese, small dolichocephaly, hypertelorism, anteverted nostrils, micrognathia, hypospadias and shawl scrotum. The cranial MRI showed the delayed myelination of occipital lobe. As far as we could review published reports, we were unable to find other report on monozygotic twins having the Smith-Lemli-Opitz syndrome.

摘要

相似文献

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No To Hattatsu. 1992 Sep;24(5):485-90.
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The Smith-Lemli-Opitz syndrome.史密斯-勒米-奥皮茨综合征
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