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)

Toyoki MAEDA; Masamitsu HATAKENAKA; Hiromi MUTA; Masaharu NAKAYAMA; Yukoh NAKAZAKI; Takashi HIROYAMA; Tomokazu SUZUKI; Kenzaburo TANI

doi:10.2169/internalmedicine.43.432

Neurologic Diseases

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)

Toyoki MAEDA, Masamitsu HATAKENAKA, Hiromi MUTA, Masaharu NAKAYAMA, Yukoh NAKAZAKI, Takashi HIROYAMA, Tomokazu SUZUKI, Kenzaburo TANI

Author information

Toyoki MAEDA
Division of Molecular and Clinical Genetics, the Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University
Masamitsu HATAKENAKA
Department of Radiology, Medical Institute of Bioregulation, Kyushu University
Hiromi MUTA
Division of Molecular and Clinical Genetics, the Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University
Masaharu NAKAYAMA
Division of Molecular and Clinical Genetics, the Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University
Yukoh NAKAZAKI
Division of Molecular and Clinical Genetics, the Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University
Takashi HIROYAMA
Division of Molecular and Clinical Genetics, the Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University
Tomokazu SUZUKI
Division of Molecular and Clinical Genetics, the Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University
Kenzaburo TANI
Division of Molecular and Clinical Genetics, the Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University

Keywords: aged case, craniofacial syndrome, vertebral fusion, fibroblast growth factor recptor 2

JOURNAL OPEN ACCESS

2004 Volume 43 Issue 5 Pages 432-435

DOI https://doi.org/10.2169/internalmedicine.43.432

Details

Abstract

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.

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