Osteogenesis Imperfecta

References

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Allman Updyke, E. & Welsh, E. (2024, January 2). Osteogenesis Imperfecta: All Bones About It. This Podcast Will Kill You. https://thispodcastwillkillyou.com/2024/01/02/ep-132-osteogenesis-imperfecta-all-bones-about-it/

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Bellur, S., Jain, M., Cuthbertson, D., Krakow, D., Shapiro, J. R., Steiner, R. D., ... & Nagamani, S. C. (2016). Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Genetics in Medicine, 18(6), 570-576.

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Bodian DL, et al. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Mol Genet. 2009;18:463–471. https://doi.org/10.1093/hmg/ddp083

 

Botor M, Fus-Kujawa A, Uroczynska M, Stepien KL, Galicka A, Gawron K, Sieron AL. Osteogenesis Imperfecta: Current and Prospective Therapies. Biomolecules. 2021; 11(10):1493. https://doi.org/10.3390/biom11101493

 

Charnas, L.R. & Marini, F.C. (1993). Communicating Hydrocephalus, basilar invagination and other neurologic features in osteogenesis imperfecta. Neurology Journals 34(12). https://doi.org/10.1212/WNL.43.12.2603

 

Cubert, R., Cheng, E. Y., Mack, S., Pepin, M. G., & Byers, P. H. (2001). Osteogenesis imperfecta: mode of delivery and neonatal outcome. Obstetrics & Gynecology, 97(1), 66-69.

 

Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T. (2021). Current Overview of Osteogenesis Imperfecta. Medicina. 57(5):464. https://doi.org/10.3390/medicina57050464

 

Devogelaer, Jean-Pierre, et al. “Radiological manifestations of bisphosphonate treatment with APD in a child suffering from osteogenesis imperfecta.” Skeletal radiology 16 (1987): 360-363

 

Dhallan, R.; Guo, X.; Emche, S.; Damewood, M.; Bayliss, P.; Cronin, M.; Barry, J.; Betz, J.; Franz, K.; Gold, K.; et al. A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: A preliminary study. Lancet 2007, 369, 474–481

 

Dinulescu A, Păsărică A-S, Carp M, Dușcă A, Dijmărescu I, Pavelescu ML, Păcurar D, Ulici A. New Perspectives of Therapies in Osteogenesis Imperfecta—A Literature Review. Journal of Clinical Medicine. 2024; 13(4):1065. https://doi.org/10.3390/jcm13041065

 

Gregersen, P.A., & Savariraya, R. (2019). Type II Collagen Disorders Overview. Europe PMC. PMID: 31021589.

 

Hill, M., Hammond, J., Sharmin, M., et al. (2021). Living with Osteogenesis Imperfecta: A Qualitative Study Exploring Experiences and Psychosocial Impact from the Perspective of Patients, Parents, and Professionals. Disability and Health Journal (15(1). https://doi.org/10.1016/j.dhjo.2021.101168

 

Hoyer-Kuhn, H.; Netzer, C.; Semler, O. Osteogenesis Imperfecta: Pathophysiology and Treatment. Wien. Med. Wochenschr. 2015, 165, 278–284.

 

Kimura, I., Araki, R., Yoshizato, T. et al. A case of fetal osteogenesis imperfecta type 2A: longitudinal observation of natural course in utero and pitfalls for prenatal ultrasound diagnosis. J Med Ultrasonics 42, 565–570 (2015). https://doi.org/10.1007/s10396-015-0645-1

 

Leali, P.T.; Balsano, M.; Maestretti, G.; Brusoni, M.; Amorese, V.; Ciurlia, E.; Andreozzi, M.; Caggiari, G.; Doria, C. Efficacy of teriparatide vs neridronate in adults with osteogenesis imperfecta type I: A prospective randomized international clinical study. Clin. Cases Miner. Bone Metab. 2017, 14, 153–156

 

Lindahl, K., Kindmark, A., Laxman, N. et al (2013). Allele Dependent Silencing of Collagen Type I Using Small Interfering RNAs Targetting 3’UTR Indels – a Novel Therapeutic Approach in Osteogenesis Imperfecta. International Journal of Medical Sciences, 10(10): 1333-1343. doi: 10.7150/ijms.5774

 

Ljunggren, Ö.; Lindahl, K.; Rubin, C.-J.; Kindmark, A. Allele-Specific Gene Silencing in Osteogenesis Imperfecta. Endocr. Dev. 2011, 21, 85–90

 

Martin, T.J.; Seeman, E. Bone remodelling: Its local regulation and the emergence of bone fragility. Best Pract. Res. Clin. Endocrinol. Metab. 2008, 22, 701–722. 

 

Murrin, E.M., Nelsen, G., Apostolakis-Kyrus, K. et al. (2022). Evaluation of First Trimester Ultrasound Fetal Biometry Ratios Femur Length/Biparietal Diameter, Femur Length/Abdominal Circumference and Femur Length / Foot for the Screening of Skeletal Dysplasia. Obstetrics and Gynecology, 43(7): 919-928. https://doi.org/10.1002/pd.6295

 

Novak, L., Steinberger, D., Wilhelm, A. & Bahlmann, F. (2016). Osteogenesis Imperfecta type II with the variant c.4237G>A (p.Asp1413Asn) in COL1A1 in a dichorionic, diamniotic twin pregnancy. Case Reports in Perinatal Medicine, 5(1), 45-48. https://doi.org/10.1515/crpm-2015-0059

 

Parilla, B.V., Leeth, E.A., Kambich, M.P. et al. (2003). Antenatal Detection of Skeletal Dysplasia. Journal of Ultrasound in Medicine 22(3): 255-258. https://doi.org/10.7863/jum.2003.22.3.255

Osteogenesis Imperfecta Foundation (OIF), 2024. https://oif.org/informationcenter/about-oi/

 

Salomon, L.J., Sotiriadis, A., Wulff, C.B. et al (2019). Risk of Miscarriage Following Amniocentesis of Chorionic Villus Samplling: Systematic Review of Literature and Updated meta-Analysis. Ultrasound Obstetrics and Gynecology, 54: 4420451.
https://doi.org/10.1002/uog.20353

 

Thompson, E.M. (1993). Non-Invasive Prenatal Diagnosis of Osteogenesis Imperfecta. American Journal of Medical Genetics, 45(2): 201-206. https://doi.org/10.1002/ajmg.1320450210

 

Van Dijk, F.S., Pals, G., Van Rijn, R.R. et al (2010). Classification of Osteogenesis Imperfecta Revisited. European Journal of Medical Genetics. 53(1): 1-5. https://doi.org/10.1016/j.ejmg.2009.10.007

 

Weaver, J.S., Revels, JW., Elifritz, J.M. et al (2021). Clinical Manifestations and Medical Imaging of Osteogenesis Imperfecta: Fetal Through Adulthood. Acta Medica Academica, 50(2). DOI: 10.5644/ama2006-124.343

 

Interview with Parents by pseudonyms Charles, Emma, and Anne. 2024.