Muencke Syndrome With Cleft Lip and Palate
Muencke Syndrome With Cleft Lip and Palate
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DOI：
10.1097/scs.0b013e31829035c3
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发表时间：
2013-07-01
影响因子：
0.9
通讯作者：
Moore, Mark H.
中科院分区：
文献类型：
--
作者：
Anderson, Peter J.;Snell, Broughton;Moore, Mark H.
Muencke综合征是由FGFR3基因突变引起的，尽管临床表现是可变的，但重要的关键发现包括冠状骨结合。我们介绍了一个家庭，其中一个母亲与FGFR3 Pro250Arg突变证实生下同卵双胞胎谁都有颅缝早闭，但同时存在双边唇腭裂。我们相信，这是第一次描述与Muencke综合征一起发生的分裂，因此进一步扩展了这种综合征可能发生的表型变异的范围。
Muencke syndrome results from mutations in the FGFR3 gene, and although it is well recognized that the clinical presentation is variable, the important key finding includes coronal synostosis. We present a family where a mother with proven FGFR3 Pro250Arg mutation gave birth to identical twins both of whom had craniosynostosis but had coexisting bilateral cleft lip and palate. We believe that this is the first description of clefting occurring in conjunction with Muencke syndrome and so further extends the range of phenotypic variation that can occur in this syndrome.