Osteogenesis imperfecta is a hereditary disease characterized by bone fragility due to a defect in type I collagen synthesis. The diagnosis is typically suspected based on suggestive ultrasound findings and confirmed through genetic studies. We present a case of osteogenesis imperfecta suspected during obstetrical ultrasound at 19 weeks’ gestation, which was later confirmed radiographically through computed tomography. Due to the severity of the condition, therapeutic termination of pregnancy was indicated.
References
[1]
Hsayaoui, N., Mbarki, C., Melliti, S., Elkadhi, Y., Douik, F., Mezghanni, S., et al. (2015) L’ostéogenèse imparfaite: à propos d’un cas. Pan African Medical Journal, 21, Article 83. https://doi.org/10.11604/pamj.2015.21.83.6416
[2]
Amberger, J.S., Bocchini, C.A., Schiettecatte, F., Scott, A.F. and Hamosh, A. (2014) Omim.org: Online Mendelian Inheritance in Man (OMIM®), an Online Catalog of Human Genes and Genetic Disorders. Nucleic Acids Research, 43, D789-D798. https://doi.org/10.1093/nar/gku1205
[3]
Dinulescu, A., Păsărică, A., Carp, M., Dușcă, A., Dijmărescu, I., Pavelescu, M.L., et al. (2024) New Perspectives of Therapies in Osteogenesis Imperfecta—A Literature Review. Journal of Clinical Medicine, 13, Article 1065. https://doi.org/10.3390/jcm13041065
[4]
Andersson, K., Dahllöf, G., Lindahl, K., Kindmark, A., Grigelioniene, G., Åström, E., et al. (2017) Mutations in COL1A1 and COL1A2 and Dental Aberrations in Children and Adolescents with Osteogenesis Imperfecta—A Retrospective Cohort Study. PLOS ONE, 12, e0176466. https://doi.org/10.1371/journal.pone.0176466
[5]
Panzaru, M., Florea, A., Caba, L. and Gorduza, E.V. (2023) Classification of Osteogenesis Imperfecta: Importance for Prophylaxis and Genetic Counseling. World Journal of Clinical Cases, 11, 2604-2620. https://doi.org/10.12998/wjcc.v11.i12.2604
[6]
Chamunyonga, F., Masendeke, K.L. and Mateveke, B. (2019) Osteogenesis Imperfecta and Pregnancy: A Case Report. Journal of Medical Case Reports, 13, Article No. 363. https://doi.org/10.1186/s13256-019-2296-0
[7]
Deguchi, M., Tsuji, S., Katsura, D., Kasahara, K., Kimura, F. and Murakami, T. (2021) Current Overview of Osteogenesis Imperfecta. Medicina, 57, Article 464. https://doi.org/10.3390/medicina57050464
[8]
Milks, K.S., Hill, L.M. and Hosseinzadeh, K. (2016) Evaluating Skeletal Dysplasias on Prenatal Ultrasound: An Emphasis on Predicting Lethality. Pediatric Radiology, 47, 134-145. https://doi.org/10.1007/s00247-016-3725-5
[9]
Gilligan, L.A., Calvo-Garcia, M.A., Weaver, K.N. and Kline-Fath, B.M. (2019) Fetal Magnetic Resonance Imaging of Skeletal Dysplasias. Pediatric Radiology, 50, 224-233. https://doi.org/10.1007/s00247-019-04537-8
[10]
Ulla, M., Aiello, H., Cobos, M.P., Orioli, I., García-Mónaco, R., Etchegaray, A., et al. (2011) Prenatal Diagnosis of Skeletal Dysplasias: Contribution of Three-Dimensional Computed Tomography. Fetal Diagnosis and Therapy, 29, 238-247. https://doi.org/10.1159/000322212
