title: Muencke syndrome with cleft lip and palate.
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.
authors.affiliation: Australian Craniofacial Unit, Women's and Children's Hospital, North Adelaide, South Australia. haemro2@hotmail.com
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Anderson
authors.forename: Broughton
authors.initials: B
authors.lastname: Snell
authors.forename: Mark H
authors.initials: MH
authors.lastname: Moore
mesh_terms: D000328:Adult; D002971:Cleft Lip / Q000175:diagnosis* / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics*; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D004200:Diseases in Twins / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D013577:Syndrome; D014430:Twins, Monozygotic; D016216:Ultrasonography, Prenatal
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3