Reports have demonstrated that
Crouzon's disease is associated with a gene on chromosome 10 coding for the fibroblastic
growth factor (
FGF) receptor 2. The purpose of this investigation was to evaluate the
FGF receptor 2 levels in cranial sutures of children with
Crouzon's disease and nonsyndromic, isolated
craniosynostosis. Twelve children between the ages of 6 and 24 months were studied. Four patients had
Crouzon's disease with coronal
suture stenosis. The 8 remaining had a nonsyndromic, isolated coronal
stenosis. Stenosed and adjacent nonstenosed cranial sutures were removed at cranioplasty and promptly fixed, decalcified, and embedded in
paraffin. Immunohistochemical analysis of cranial sutures was performed with labeled, specific anti-
FGF receptor 2
antibodies. In children with
Crouzon's disease, we found significantly lower levels of
FGF receptor 2 staining in stenosed
sutures compared with nonstenosed
sutures. In addition,
sutures from children with
Crouzon's disease demonstrated lower levels of
FGF receptor 2 activity in both stenosed and nonstenosed
sutures compared with children with a nonsyndromic, isolated coronal
stenosis. However, there were no significant differences in
FGF receptor 2 staining between stenosed and nonstenosed
sutures in children with a nonsyndromic, isolated coronal
stenosis. These findings suggest that low
FGF receptor 2 activity in cranial sutures correlates with
Crouzon's disease. This work supports genetic studies and yet shows that patients with
Crouzon's disease have low
FGF receptor 2 activity in cranial sutures. The findings also suggest that there may be etiological differences between syndrome- and nonsyndrome-associated
craniosynostoses in children.