Cephalometrical and mutational analyses of familial case of Crouzon syndrome

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Craniosynostotic disorders including Crouzon syndrome are known to have a variety of craniofacial manifestations. We report family case in which the proband were clinically diagnosed as Crouzon syndrome in spite of minimum clinical indications in their parent. We investigated the family members for craniofacial features and mutations in the gene encoding fibroblast growth factor receptor type 2 (FGFR2). The proband was identified having a missense mutation at amino acid position 362 alanine in the 3'end of exon IIIc, which forms the third immunoglobulin-like domain. The father of this patient did not have a clear indication of Crouzon syndrome, nevertheless, he had the same point mutation. Cephalometric analysis showed that the abnormal characteristics for posterior cranial height and midface deficiency were common in patient and his father. These findings suggest extremely wide phenotypic variations in Crouzon syndrome and that a mutational analysis helps to clarify the cases having a minimal abnormality.
日本矯正歯科学会の論文