Trigonocephaly in Muenke syndrome.
Saethre-Chotzen syndrome is caused by mutations in the TWIST gene on chromosome 7p21.2. However, Muenke et al. [(1997); Am J Hum Genet 91: 555-564] described a new subgroup carrying the Pro250Arg mutation in the fibroblast growth factor receptor (FGFR) 3 gene on chromosome 4p16. Uni or bicoronal synostosis appears to be the main clinical finding in both syndromes. We observed trigonocephaly as a new manifestation in Muenke syndrome. As a consequence we advise to routinely perform mutation analysis of the FGFR1, 2, and 3 genes in children with non-syndromic trigonocephaly.
van der Meulen
Jacques
J
Department of Plastic and Reconstructive Surgery, Dutch National Craniofacial Center, Erasmus Medical Centre, Rotterdam, The Netherlands. j.vandermeulen@erasmusmc.nl
van den Ouweland
Ans
A
Hoogeboom
Jeannette
J
D019943:Amino Acid Substitution; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D021621:Imaging, Three-Dimensional; D007223:Infant; D008297:Male; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome; D014057:Tomography, X-Ray Computed
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3