一个家族中的瓦登伯革氏综合征和脊髓脊膜膨出症
Waardenburg syndrome and myelomeningocele in a family.
作者信息
Chatkupt S, Chatkupt S, Johnson W G
机构信息
Department of Pediatrics, UMDNJ, Newark 07103.
出版信息
J Med Genet. 1993 Jan;30(1):83-4. doi: 10.1136/jmg.30.1.83.
Abstract
We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.
摘要
我们报告了首例患有1型瓦登伯格综合征和脊髓脊膜膨出的家族，该家族中有不止一名成员同时患有这两种疾病。文中讨论了两者可能存在的关联。对于患有1型瓦登伯格综合征的家族，建议进行脊髓脊膜膨出的产前筛查。
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