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.

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American Journal of Medical Genetics. Part A
Department of Plastic and Reconstructive Surgery

van der Meulen, J., van den Ouweland, A., & Hoogeboom, J. (2006). Trigonocephaly in Muenke syndrome. American Journal of Medical Genetics. Part A, 140(22), 2493–2494. doi:10.1002/ajmg.a.31460