无脑儿并颅缝早闭：两例同胞兄妹病例报告及文献复习
Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature.
机构信息
Howard Hughes Medical Institute and the National Institutes of Health, USA.
出版信息
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):176-82. doi: 10.1002/ajmg.c.30234.
Abstract
Holoprosencephaly (HPE) and craniosynostosis are separate conditions that have occasionally been observed to occur simultaneously in the same patient. Here, we compile patients with both conditions who have been documented in the literature thus far; moreover, we report on two additional siblings who have not been previously described. We also compare the clinical features of these patients and discuss the previously hypothesized possibility of an independent association including both HPE and craniosynostosis.
摘要
无脑回畸形（HPE）和颅缝早闭是两种独立的疾病，在同一患者中同时出现的情况时有发生。在此，我们汇总了迄今为止文献中记载的同时患有这两种疾病的患者，并报告了另外两名以前未描述过的同胞兄妹的病例。我们还比较了这些患者的临床特征，并讨论了之前假设的独立关联性，包括 HPE 和颅缝早闭。
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