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FGFR2-related craniofacial dysostosis commonly results in minor suture fusion

Most infants with FGFR2-associated craniofacial dysostosis experience minor suture fusion, according to recent findings.

The study was conducted to test the hypothesis that minor suture synostosis may occur in infants with syndromic, progressive craniosynostosis in the postnatal setting. This, in turn, may carry an association with major suture synostosis, according to the findings.

The study included data from 84 CT scans from 73 infants younger than 1 year. Two craniofacial surgeons and one radiologist determined the presence of major and minor suture/synchondrosis fusion.

Results indicated that FGFR2 mutation carried an increased likelihood of a lack of any major suture fusion (OR = 19; P = .044).

The researchers also compared FGFR2 patients with nonFGFR2 patients to determine outcomes associated with minor suture fusion. Outcomes showed that in the FGFR2 group, minor suture fusion was more frequently reported in the posterior branch of the coronal arch (OR = 3.33; P < .001), squamosal arch (OR = 7.32; P < .001) and posterior intraoccipital synchondroses (OR = 15.84; P < .001).

Among nine patients with data available for multiple scans, a trend toward minor suture fusion followed by increased minor and major suture synostosis was observed.

Minor suture fusion was reported in more than 84% of infants with FGFR2 mutations. However, in 13% of those cases, isolated major synostosis was identified. – by Rob Volansky

Disclosure: One researcher reports that their research fellowship is supported by the Howard Hughes Medical Institute.