title: Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome.
abstract: We report on a radiographically examined fetus (gestational age 13 weeks) with Crouzon syndrome caused by a mutation in the gene encoding the fibroblast growth factor 2 (FGFR2). We found an approximately 2-week delay in vertebral body and hand ossification with normal vertebral arch ossification, suggesting that regionally delayed skeletal maturation might be a manifestation of FGFR2 mutation syndromes. The findings support other studies indicating that different signaling pathways control skeletal maturation in vertebral bodies and vertebral arches.
authors.affiliation: Department of Orthodontics, School of Dentistry, University of Copenhagen, Denmark.
authors.forename: I
authors.initials: I
authors.lastname: Kjaer
authors.forename: B F
authors.initials: BF
authors.lastname: Hansen
authors.forename: K W
authors.initials: KW
authors.lastname: Kjaer
authors.forename: F
authors.initials: F
authors.lastname: Skovby
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D003394:Craniofacial Dysostosis / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005333:Fetus; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011859:Radiography; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome; D013997:Time Factors
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2