Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type IV
Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type IV
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DOI：
10.3174/ajnr.a1038
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发表时间：
2008-06-01
影响因子：
3.5
通讯作者：
Boltshauser, E.
中科院分区：
文献类型：
--
作者：
Poretti, A.;Brehmer, U.;Boltshauser, E.
我们报告的产前和新生儿神经影像学表现的情况下，口面指综合征VI型（OFDS VI）。孕29周的产前MRI显示小脑蚓部和半球发育不良，臼齿征和下丘脑错构瘤。新生儿磁共振成像证实了这些发现。新生儿出现呼吸异常，并表现出额骨隆起，多个颊牙槽系带，和轴后六趾的双手。如果臼齿征和下丘脑错构瘤存在，产前诊断OFDS VI是可能的。
We report prenatal and neonatal neuroimaging findings in a case of oral-facial-digital syndrome type VI (OFDS VI). Prenatal MR imaging at 29 weeks' gestation showed hypoplastic cerebellar vermis and hemispheres, the molar tooth sign, and a hypothalamic hamartoma. Neonatal MR imaging confirmed these findings. The neonate developed breathing abnormalities and exhibited frontal bossing, multiple bucco-alveolar frenula, and postaxial hexadactyly of both hands. If the molar tooth sign and a hypothalamic hamartoma are present, prenatal diagnosis of OFDS VI is possible.