与肢体远端缺陷相关的丹迪-沃克畸形的产前诊断。
Prenatal diagnosis of Dandy-Walker malformation associated with distal limb deficiencies.
作者信息
Chen C P, Chien S C, Chern S R, Tzen C Y, Wang W
机构信息
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
出版信息
Genet Couns. 2007;18(3):343-7.
PMID:18019377
Abstract
We report the perinatal findings of a 23 gestational-week fetus with Dandy-Walker malformation (DWM), ventriculomegaly, symmetrical transverse limb deficiencies, hypertelorism, frontal bossing, low-set ears, and a depressed nasal bridge. The karyotype was 46,XX. We believe that this combination is significant. Concomitant DWM and symmetrical distal limb deficiencies may represent a new entity that awaits more new cases for further delineation.
摘要
我们报告了一名孕23周胎儿的围产期检查结果，该胎儿患有丹迪-沃克畸形（DWM）、脑室扩大、对称性横断肢体缺损、眼距过宽、前额突出、低位耳及鼻梁凹陷。核型为46,XX。我们认为这种组合具有重要意义。DWM与对称性远端肢体缺损同时出现可能代表一种新的病症，有待更多新病例进一步明确。
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