Anderson Peter J, Snell Broughton, Moore Mark H
Australian Craniofacial Unit, Women's and Children's Hospital, North Adelaide, South Australia.
J Craniofac Surg. 2013 Jul;24(4):1484-5. doi: 10.1097/SCS.0b013e31829035c3.
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.
穆恩克综合征由FGFR3基因突变引起，尽管人们已经充分认识到其临床表现具有多样性，但重要的关键发现包括冠状缝早闭。我们报告了一个家庭，一位经证实携带FGFR3基因Pro250Arg突变的母亲生下了一对同卵双胞胎，这两个孩子都患有颅缝早闭，同时还伴有双侧唇腭裂。我们认为，这是首次描述穆恩克综合征合并腭裂的情况，因此进一步扩展了该综合征可能出现的表型变异范围。
