Trigonocephaly

Definition:

Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly.

References:

[1]. Lisenka E L M Vissers, et al. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet. 2011 Sep;7(9):e1002278. [Content Brief]

[2]. Takeyoshi Shimoji, et al. Mild trigonocephaly and intracranial pressure: report of 56 patients. Childs Nerv Syst. 2004 Oct;20(10):749-56. [Content Brief]

[3]. W Kress, et al. An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. Cytogenet Cell Genet. 2000;91(1-4):138-40. [Content Brief]

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