title: 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).
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.
authors.affiliation: Division of Molecular and Clinical Genetics, Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University, 3-1-1 Higashi-ku, Maidashi, Fukuoka 812-8582.
authors.forename: Toyoki
authors.initials: T
authors.lastname: Maeda
authors.forename: Masamitsu
authors.initials: M
authors.lastname: Hatakenaka
authors.forename: Hiromi
authors.initials: H
authors.lastname: Muta
authors.forename: Masaharu
authors.initials: M
authors.lastname: Nakayama
authors.forename: Yukoh
authors.initials: Y
authors.lastname: Nakazaki
authors.forename: Takashi
authors.initials: T
authors.lastname: Hiroyama
authors.forename: Tomokazu
authors.initials: T
authors.lastname: Suzuki
authors.forename: Kenzaburo
authors.initials: K
authors.lastname: Tani
mesh_terms: D003394:Craniofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D017354:Point Mutation; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D018570:Risk Assessment; D012720:Severity of Illness Index; D013131:Spine / Q000002:abnormalities*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2