Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome

Citation
I. Kjaer et al., Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome, AM J MED G, 90(5), 2000, pp. 386-389
Citations number
22
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
90
Issue
5
Year of publication
2000
Pages
386 - 389
Database
ISI
SICI code
0148-7299(20000228)90:5<386:ATITPO>2.0.ZU;2-L
Abstract
We report on a radiographically examined fetus (gestational age 13 weeks) w ith Crouzon syndrome caused by a mutation in the gene encoding the fibrobla st growth factor 2 (FGFR2). We found an approximately S-week delay in verte bral body and hand ossification with normal vertebral arch ossification, su ggesting that regionally delayed skeletal maturation might be a manifestati on of FGFR2 mutation syndromes. The findings support other studies indicati ng that different signaling pathways control skeletal maturation in vertebr al bodies and vertebral arches. (C) 2000 Wiley-Liss, Inc.