339
Views
6
CrossRef citations to date
0
Altmetric
Original Articles

Diagnosis of Fetal Osteogenesis imperfecta by Multidisciplinary Assessment: A Retrospective Study of 10 Cases

, , , , &
Pages 57-64 | Received 28 Jan 2014, Accepted 02 Sep 2014, Published online: 07 Oct 2014

REFERENCES

  • Schramm T, Gloning KP, Minderer S, et al. Prenatal sonographic diagnosis of skeletal dysplasis. Ultrasound Obstet Gynecol 2009;l34:160–170.
  • Byers PH, Tsipouras P, Bonadio JF, et al. Perinatal lethal Osteogenesis imperfecta (OI typeII): a biochemically heterogeneous disorder usually due to new mutations in the genes for type 1 collagen. Am J Hum Genet 1988;42:237–248.
  • Hadlock FP, Deter RL, Harrist RB, Park SK. Estimating fetal age: computer-assisted analysis of multiple fetal growth parameters. Radiology 1984;152:497–501.
  • Sillence DO, Senn A, Danks DM. Genetic heterogeneity in Osteogenesis imperfecta. J Med Genet 1979; 16:101–116.
  • Bahado-Singh RO, Raymond M. The 20-week scan: beyond biometry and anatomy. Clin Obstet Gynecol 2007;50:478–486.
  • Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med 2009; 11:127–133.
  • Superti-Furga A, Bonafe L, Rimoin DL. Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet 2001;106:282–293.
  • Rauch F, Glorieux FH. Osteogenesis imperfecta. The Lancet 2004; 363:1377–1385.
  • Van Dijk FS, Cobben JM, Kariminejad A, et al. Osteogenesis imperfecta: a review with clinical examples. Mol Syndromol 2011;2:1–20.
  • Pepin M, Atkinson M, Starman BJ, Byers PH. Strategies and outcomes of prenatal diagnosis for Osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies. Prenat Diagn 1997;17:559–570.
  • Steiner RD, Adsit J, Basel D. COL1A1/2-related Osteogenesis imperfecta. Gene Reviews™[Internet]. Seattle, WA: University of Washington; 1993–2013.
  • Ben Amor IM, Glorieux FH, Fauch F. Genotype-phenotype correlations in autosomal dominant Osteogenesis imperfecta. J Osteoporosis 2011;540178.
  • Bodian DL, Chan TF, Poon A, et al. Mutation and polymorphism spectrum in Osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Mol Genet 2009; 18:463–471.
  • Marini JC, Forlino A, Cabral WA, et al. Consortium for Osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat 2007; 28:209–221.
  • Van Dijk FS, Byers PH, Dalgleish R, et al. EMQN best practice guidelines for the laboratory diagnosis of Osteogenesis imperfecta. Eur J Hum Genet 2012;20:11–19.
  • Rauch F, Lalic L, Roughley P, Glorieux FH. Genotype-phenotype correlations in nonlethal Osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet 2010; 18:642–647.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.