Muencke syndrome With cleft lip and palate
Date
2013
Authors
Anderson, P.J.
Snell, B.
Moore, M.H.
Editors
Advisors
Journal Title
Journal ISSN
Volume Title
Type:
Journal article
Citation
Journal of Craniofacial Surgery, 2013; 24(4):1484-1485
Statement of Responsibility
Peter J. Anderson, Broughton Snell
Conference Name
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.
School/Discipline
Dissertation Note
Provenance
Description
Access Status
Rights
© 2013 Mutaz B. Habal, MD