Multiple Intrauterine Fractures – Review of two cases of Osteogenesis Imperfecta Congenita

  • Ezra Olatunde ogundare Ekiti State University, Ado-Ekiti
  • Akinyemi Akinsoji Akintayo Ekiti State University, Ado-Ekiti
  • Oladele Simeon Olatunya Ekiti State University, Ado-Ekiti
  • Isaac Oludare Oluwayemi Ekiti State University, Ado-Ekiti
  • Sunday Ogunsuyi Popoola Ekiti State University, Ado-Ekiti
  • Adeniran Samuel Atiba Ekiti State University, Ado-Ekiti
Keywords: Osteogenesis Imperfecta, Prenatal Diagnosis, Multiple fractures, Management Challenges


Background: Osteogenesis Imperfecta (OI) is an uncommon congenital abnormality of the connective tissues in which diagnosis and management pose big challenges especially in Low Income and Medium Countries (LIMC). The aim is to draw attention to the rareness of an uncommon congenital lesions.

Methods: Two cases of OI were seen at birth and managed in Ekiti State University Teaching Hospital, Ado-Ekiti, Nigeria.

Result: One of the babies died shortly after birth while the other baby was managed and discharged. She was being followed up until the parents stopped coming for follow-up visits. She eventually died at home after series of repeated admissions and management for respiratory tract infections.

Conclusion: A high index of suspicion is needed prenatally. When detected at birth, parents are to be educated on the multidisciplinary approach of management, challenges and possible outcome as there is yet no cure of this condition.

Author Biographies

Ezra Olatunde ogundare, Ekiti State University, Ado-Ekiti
Akinyemi Akinsoji Akintayo, Ekiti State University, Ado-Ekiti
Obstetrics and Gynaecology
Oladele Simeon Olatunya, Ekiti State University, Ado-Ekiti
Isaac Oludare Oluwayemi, Ekiti State University, Ado-Ekiti
Sunday Ogunsuyi Popoola, Ekiti State University, Ado-Ekiti
Adeniran Samuel Atiba, Ekiti State University, Ado-Ekiti
Chemical Pathology



Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives in Osteogenesis imperfecta. Nat. Rev. Endocrinol. 2011; 7, 540–557.

Akiode O, Ogunfowora OB, Shonubi A, Bajomo AA, Musa AA, Sotimehin SA. Osteogenesis Imperfecta Congenita in a Nigerian baby. SICOT Online Report 2003 E049.

Marini Joan C. Osteogenesis Imperfecta. In: Nelson Textbook of Paediatrics. 19th ed. Edited by Behrman, Kliegman, Stanton, Schor, St Geme III. Elsevier Saunders Philadelphia, U.S.A 2011. p.2437-2440.

Viljoen, D., Beighton, P. Osteogenesis imperfecta type III: an ancient mutation in Africa? Am. J. Med. Genet. 1987; 27: 907-912.

Beighton P, Spranger J, Versveld G. Skeletal complications in osteogenesis imperfecta. A review of 153 South African patients. S Afr Med J 1983; 64: 565-8.

Astley R. Metaphyseal fractures in osteogenesis imperfecta. Br J Radiol 1979; 52: 441-443.

Akinola R, Disu E., Adewole O.: Osteogenesis imperfecta: A Report Of Two Cases. The Internet Journal of Pediatrics and Neonatology. 2008; 8(2): DOI: 10.5580/cd.

Sillence, D. O. & Rimoin, D. L. Classification of osteogenesis imperfecta. Lancet 1978; 1: 1041–1042.

Cabral WA, Barnes AM, Adeyemo A, Cushing K, Chitayat D, Porter FD et al. A Founder Mutation in LEPRE1 Carried by 1.5% of West Africans and 0.4% of African Americans Causes Lethal Recessive Osteogenesis Imperfecta. Genet Med. 2012 ; 14(5): 543–551.

Bachrach LK, Ward LM. Clinical review 1: Bisphosphonate use in childhood osteoporosis. J. Clin. Endocrinol. Metab. 2009; 94: 400–409.

Bargman R, Huang A, Boskey AL, Raggio C, Pleshko N. RANKL inhibition improves bone properties in a mouse model of Osteogenesis imperfect. Connect. Tissue Res. 2010; 51: 123-131.

Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C et al. Evaluation of teriparatide treatment in adults with osteogenesis imperfect. J Clin Invest. 2014; 124(2): 491-498.

Antoniazzi, F, Bertoldo F, Mottes M, Valli M, Sirpresi S, Zamboni G et al. Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis. J. Pediatr. 1996; 129:432–439.

Antoniazzi F, Monti E, Venturi G, Franceschi R, Doro F, Gatti D et al. Growth hormone in combination with bisphosphonate treatment in Osteogenesis imperfecta. Eur J. Endocrinol 2010; 163: 479-487.

Mehrotra M, Rosol M, Ogawa M, Larue AC. Amelioration of a mouse model of osteogenesis imperfecta with hematopoietic stem cell transplantation: microcomputed tomography studies. Exp. Hematol.2010; 38: 593–602.

Guillot PV, Abass O, Bassett JHD, Shefelbine SJ, Bou-Gharios G, Chan J et al. Intrauterine transplantation of human fetal messenchymal stem cells from first trimester blood repairs bone and reduces fractures in osteogenesis imperfecta mice. Blood 2008; 111: 1717-1725.

Panaroni C, Giola R, Lupi A, Besio R, Goldstein SA, Kreider J et al. In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta. Blood 2009; 114(2): 459–468.

Millington-Ward S, McMahon HP, Farrar GJ. Emerging therapeutic approaches for osteogenesis imperfecta. Trends Mol. Med.2005; 11: 299–305.

Sloan LA, Fillmore MC, Churcher I. Small-molecule modulation of cellular chaperones to treat protein misfolding disorders. Curr. Opin. Drug Discov. Devel. 2009; 12: 666–681.

Luhmann SJ, Sheridan JJ, Capelli AM, Schoenecker PL. Management of lower-extremity deformities in osteogenesis imperfecta with extensible intramedullary rod technique: a 20-year experience. J. Pediatr. Orthop. 1998; 18: 88–94.