Clinically Mild, Atypical, and Aged Craniofacial Syndrome is Diagnosed as Crouzon Syndrome by Identification of a Point Mutation in the Fibroblast Growth Factor Receptor 2 Gene (FGFR2)

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A 53-year-old Japanese woman presented with mild mental retardation, short stature, hypertelorism, saddle nose, vertebral fusion, and hydrocephalus, implying an underlying bone growth impairment mainly of the head and neck. A point mutation in fibroblast growth factor receptor 2 (FGFR2) was identified that had previously been seen only in sporadic cases of Crouzon syndrome. This patient did not exhibit any of the typical features of Crouzon syndrome primarily seen in affected infants, such as a severely deformed skull, an apical shaped skull, or severe mental retardation. The patient was diagnosed with a mild form of Crouzon syndrome. The patient’s symptoms very early in life may have been ameliorated and modified through growth and aging. The age-related phenotype modifications in Crouzon syndrome are discussed.
社団法人　日本内科学会の論文
2004-05-01