Muencke syndrome With cleft lip and palate

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dc.contributor.authorAnderson, P.J.
dc.contributor.authorSnell, B.
dc.contributor.authorMoore, M.H.
dc.date.issued2013
dc.description.abstractMuencke 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.
dc.description.statementofresponsibilityPeter J. Anderson, Broughton Snell
dc.identifier.citationJournal of Craniofacial Surgery, 2013; 24(4):1484-1485
dc.identifier.doi10.1097/SCS.0b013e31829035c3
dc.identifier.issn1536-3732
dc.identifier.issn1536-3732
dc.identifier.orcidAnderson, P.J. [0000-0002-3730-4652]
dc.identifier.orcidMoore, M.H. [0000-0003-2136-0315]
dc.identifier.urihttp://hdl.handle.net/2440/91461
dc.language.isoen
dc.publisherLippincott, Williams & Wilkins
dc.rights© 2013 Mutaz B. Habal, MD
dc.source.urihttps://doi.org/10.1097/scs.0b013e31829035c3
dc.subjectHumans
dc.subjectCraniosynostoses
dc.subjectCleft Palate
dc.subjectCleft Lip
dc.subjectSyndrome
dc.subjectDiseases in Twins
dc.subjectUltrasonography, Prenatal
dc.subjectDNA Mutational Analysis
dc.subjectTwins, Monozygotic
dc.subjectAdult
dc.subjectInfant
dc.subjectInfant, Newborn
dc.subjectFemale
dc.subjectMale
dc.subjectReceptor, Fibroblast Growth Factor, Type 3
dc.titleMuencke syndrome With cleft lip and palate
dc.typeJournal article
pubs.publication-statusPublished

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