Document Detail

Muencke syndrome with cleft lip and palate.
MedLine Citation:
PMID:  23851839     Owner:  NLM     Status:  In-Data-Review    
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.
Peter J Anderson; Broughton Snell; Mark H Moore
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Journal of craniofacial surgery     Volume:  24     ISSN:  1536-3732     ISO Abbreviation:  J Craniofac Surg     Publication Date:  2013 Jul 
Date Detail:
Created Date:  2013-07-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9010410     Medline TA:  J Craniofac Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1484-5     Citation Subset:  D    
From the Australian Craniofacial Unit, Women's and Children's Hospital, North Adelaide, South Australia.
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