| Literature DB >> 10706360 |
I Kjaer1, B F Hansen, K W Kjaer, F Skovby.
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.Entities:
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Year: 2000 PMID: 10706360 DOI: 10.1002/(sici)1096-8628(20000228)90:5<386::aid-ajmg8>3.0.co;2-m
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299