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

I Kjaer; B F Hansen; K W Kjaer; F Skovby

doi:10.1002/(sici)1096-8628(20000228)90:5<386::aid-ajmg8>3.0.co;2-m

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

Am J Med Genet. 2000 Feb 28;90(5):386-9. doi: 10.1002/(sici)1096-8628(20000228)90:5<386::aid-ajmg8>3.0.co;2-m.

Authors

I Kjaer¹, B F Hansen, K W Kjaer, F Skovby

Affiliation

¹ Department of Orthodontics, School of Dentistry, University of Copenhagen, Denmark.

PMID: 10706360
DOI: 10.1002/(sici)1096-8628(20000228)90:5<386::aid-ajmg8>3.0.co;2-m

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / diagnostic imaging*
Abnormalities, Multiple / genetics
Craniofacial Dysostosis / diagnostic imaging*
Craniofacial Dysostosis / genetics
Female
Fetus
Hand Deformities, Congenital / diagnostic imaging*
Hand Deformities, Congenital / genetics
Humans
Mutation
Pregnancy
Radiography
Receptor Protein-Tyrosine Kinases / genetics
Receptor, Fibroblast Growth Factor, Type 2
Receptors, Fibroblast Growth Factor / genetics
Spine / abnormalities*
Syndrome
Time Factors

Substances

Receptors, Fibroblast Growth Factor
FGFR2 protein, human
Receptor Protein-Tyrosine Kinases
Receptor, Fibroblast Growth Factor, Type 2