Osteogenesis imperfecta: a literature review and a clinical case of a perinatal-lethal type of disease

The article presents the modern views of clinicians and geneticists on one of the most severe genetic disorders of skeletal and connective tissues - osteogenesis imperfecta. The review provided the literature data that showed the incidence rates, genetic heterogeneity of osteogenesis imperfecta, as well as the role of some proteins involved in the construction of bone tissue, as well as a clinical classification of the main types of the disorder. The authors described a clinical case: a girl with typical clinical and radiological manifestations of the rarest of all types of osteogenesis imperfecta - type II (perinatal-lethal, congenital osteogenesis imperfecta, Vrolik’s syndrome). The child’s diagnosis was verified by a parallel DNA sequence analysis which showed a heterozygous mutation in exon 29 (c.1966G> A) of COL1A1 gene not previously described in the literature. It caused the substitution of glycine for serine at position 656. The role of antenatal diagnostics and the importance of medical genetic counselling of the family before planning the next pregnancy due to the existing risk of re-birth of a sick child is outlined. Due to the fact that majority of the patients with the most prognostically unfavourable type II osteogenesis imperfecta, as a rule, die in utero, the described case of observation of the girl with typical clinical and X-ray signs of the disorder for almost 3 months of postpartum period is extremely rare and highly indicative. The detection of the heterozygous mutation in exon 29 (c.1966G > A) of COL1A1 gene by a parallel DNA sequence analysis which was not previously described in the literature gives an additional significance to the described observation.

1. Yakhyayeva G.T., Namazova-Baranova L.S., Margiyeva T.V., Chumakova O.V. Osteogenesis Imperfecta in Children in the Russian Federation: Results of the Federal Registry Audit. Pediatricheskaya farmakologiya = Pediatric Pharmacology. 2016;13(1):44-48. (In Russ.) https://doi.org/10.15690/pf.v13i1.1514.

2. Martin E., Shapiro J.R. Osteogenesis Imperfecta: Epidemiology and Pathophysiology. Curr Osteopor Reports. 2007;5(3):91-97. https://doi.org/10.1007/s11914-007-0023-z.

3. Van Dijk F.S., Sillence D.O. Osteogenesis Imperfecta: Clinical Diagnosis, Nomenclature and Severity Assessment. Am J Med Genet. 2014;164A(6):1470-1481. https://doi.org/10.1002/ajmg.a.36545.

4. Jones K.L. David Smith’s Hereditary Syndromes: A Reference Atlas. Moscow: Praktika; 2011. 1022 p. (In Russ.).

5. Kim H.K.W. Metabolic and endocrine bone diseases. In: Herring J.A. (ed.). Tachdjian’s Pediatric Orthopaedics: From the Texas Scottish Rite Hospital for Children. 5th ed. Saunders; 2014, pp. 582-642.

6. Shcheplyagina L.A., Polyakova E.Yu., Belova N.A. The Imperfect Osteogenesis in Children: the Well-Known and Unknown Factors. Lecheniye i profilaktika = Treatment and Prevention. 2017;(1):5-11. (In Russ.) Available at: https://www.lechprof.ru/catalog/article/original_research/osteogenesis_imperfecta_in_children_known_and_unknown_facts/.

7. Land C., Rauch F., Montpetit K., Ruck-Gibis J., Glorieux F.H. Effect of Intravenous Pamidronate Therapy on Functional Abilities and Level of Ambulation in Children with Osteogenesis Imperfecta. J Pediatr. 2006;148(4):456-460. https://doi.org/10.1016/j.jpeds.2005.10.041.

8. Nadyrshina D.D., Khusainova R.I., Khusnutdinova E.K. Molecular Genetic Basis of Osteogenesis Imperfecta. Meditsinskaya genetika = Medical Genetics. 2013;12(6):15-23. (In Russ.) Available at: https://www.medgen-journal.ru/jour/issue/viewIssue/6/6.

9. Palomo T., Glorieux F.H., Schoenau E., Rauch F. Body Composition in Children and Adolescents with Osteogenesis Imperfecta. J Pediatrics. 2016;169:232-237. https://doi.org/10.1016/j.jpeds.2015.10.058.

10. Marini J.C. Osteogenesis Imperfecta. In: Kliegman R.M., Stanton B.F., Geme J.W., Schor N., Behrman R.E. (eds.). Nelson Textbook of Pediatrics. 21st ed. Philadelphia: Elsevier Health Sciences; 2011, pp. 2437-2440. Available at: https://www.us.elsevierhealth.com/nelson-textbook-of-pediatrics-2-volume-set-9780323529501.html.

11. Rauch F., Glorieux F.H. Osteogenesis Imperfecta. Lancet. 2004;363(9418): 1377-1385. https://doi.org/10.1016/S0140-6736(04)16051-0.

12. Kadasheva A.B., Cherekaev V.A., Arutyunov N.V., Galkin M.V. Rare Observation of Hyperostotic Cranial Lesions in Osteogenesis Imperfecta. Voprosy neirokhirurgii imeni N.N. Burdenko = Burdenko’s Journal of Neurosurgery. 2010;(2):24-29. (In Russ.) Available at: https://elibrary.ru/item.asp?id=15164216.

13. Povoroznyuk V.V., Grechanina E.Ya., Balatskaya N.I., Vaida V.M. Osteogenesis Imperfecta: Pathogenesis, Classification, Clinical Picture, Treatment. Ortopediya, travmatologiya i protezirovaniye = Orthopedics, Traumatology and Prosthetics. 2009;(4):110-117. (In Russ.) https://doi.org/10.15674/0030-598720094110-117.

14. Harrington J., Sochett E., Howard A. Update on the Evaluation and Treatment of Osteogenesis Imperfecta. Pediatr Clin North Amer. 2014;61(6):1243-1257. https://doi.org/10.1016/j.pcl.2014.08.010.

15. Shelestova M.L., Stygar A.M., Gus A.I., Kholin A.M. Antenatal Ultrasound Diagnostics of Osteogenesis Imperfecta Type II. Ul’trazvukovaya ifunktsion-al’naya diagnostika = Ultrasound and Functional Diagnostics. 2013;(4):66-73. (In Russ.) Available at: http://vidar.ru/Article.asp?fid=USFD_2013_4_66.

16. Medvedev M.V. Prenatal Echography: Differential Diagnosis and Prognosis. 4th ed. Moscow: Real Time; 2016. 640 p. (In Russ.).