一个提示XK无脑畸形谱系表型扩展的胎儿。
A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype.
作者信息
Kajantie E, Ammälä P, Salonen R
出版信息
Clin Dysmorphol. 2002 Oct;11(4):299-301. doi: 10.1097/00019605-200210000-00015.
Abstract
We report a fetus with atelencephaly, bilateral radial aplasia/hypoplasia, ventriculoseptal defect and megacolon, this combination of anomalies being consistent with the diagnosis of XK-aprosencephaly syndrome. The facial dysmorphology of this fetus differs from that previously reported and together with reports on overlapping phenotypes suggests an extension of the XK-aprosencephaly spectrum.
摘要
我们报告了一名患有无脑畸形、双侧桡骨发育不全/发育不良、室间隔缺损和巨结肠的胎儿，这种异常组合符合XK-无叶全前脑综合征的诊断。该胎儿的面部畸形与先前报道的不同，并且与关于重叠表型的报道一起表明XK-无叶全前脑谱系有所扩展。
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