These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Muencke syndrome with cleft lip and palate.
    Author: Anderson PJ, Snell B, Moore MH.
    Journal: J Craniofac Surg; 2013 Jul; 24(4):1484-5. PubMed ID: 23851839.
    Abstract:
    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.
    [Abstract] [Full Text] [Related] [New Search]