Literature DB >> 10706360

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

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.

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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


  2 in total

1.  Breaking evolutionary and pleiotropic constraints in mammals: On sloths, manatees and homeotic mutations.

Authors:  Irma Varela-Lasheras; Alexander J Bakker; Steven D van der Mije; Johan Aj Metz; Joris van Alphen; Frietson Galis
Journal:  Evodevo       Date:  2011-05-06       Impact factor: 2.250

2.  Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.

Authors:  Meina Lin; Yongping Lu; Yu Sui; Ning Zhao; Ying Jin; Dongxu Yi; Miao Jiang
Journal:  Mol Genet Genomic Med       Date:  2019-07-18       Impact factor: 2.183

  2 in total

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