.gif)
World Journal of Case Reports and Clinical Images
World Journal of Case Reports and Clinical Images
Case Report | Open Access
Volume 2026 - 5 | Article ID 281 | http://dx.doi.org/10.51521/WJCRCI.2026.e51.426
Academic Editor: John Bose
Anass Ayada,b, Salahiddine Saghira,b, Mohamed
Selloutia,b,
Rachid Abilkassema,b
aNeonatal Medicine and
Intensive Care Unit, Mohammed V Military Teaching Hospital, Rabat, Morocco.
bFaculty of Medicine and Pharmacy, Rabat, Morocco.
Corresponding Author: Anass Ayad, Neonatal
Medicine and Intensive Care Unit, Mohammed V Military Teaching Hospital, Rabat,
Morocco, Email: drayadanass@gmail.com
Citation: Anass Ayad, Salahiddine
Saghir, Mohamed Sellouti, Rachid Abilkassem (2025) Neonatal Osteogenesis
Imperfecta Revealed by Antenatal Fractures: A Case Report. World J Case Rep
Clin Imag. 2026 March; 5(1), 1-6.
Copyrights
©
Anass Ayad, et al., 2026, This article is licensed under the Creative Commons
Attribution-Non Commercial-4.0-International-License-(CCBY-NC)
(https://worldjournalofcasereports.org/blogpage/copyright-policy). Usage and
distribution for commercial purposes require written permission.
Abstract:
Background: Osteogenesis imperfecta (OI) is a rare genetic
disorder of connective tissue, primarily caused by mutations in the COL1A1 and COL1A2 genes encoding type I
collagen. Case presentation:
We describe a male neonate diagnosed with OI after presenting with multiple
antenatal and postnatal fractures. Prenatal ultrasound revealed intrauterine
growth restriction and long-bone deformities. Postnatal clinical and
radiological evaluations demonstrated diffuse osteopenia and multiple
diaphyseal fractures. Genetic analysis identified a heterozygous COL1A2 (p.Gly358Ser) mutation
consistent with type II OI. The patient was treated with intravenous zoledronic
acid and showed good tolerance. Conclusion:
This case highlights the diagnostic and therapeutic challenges associated with
severe neonatal OI. Early recognition, genetic confirmation, and
multidisciplinary management are essential to improving survival and quality of
life. Novel approaches—including anti-sclerostin antibodies, TGF-? inhibitors, and emerging gene-editing therapies—offer
promising perspectives for the future management of this condition.
Keywords: Osteogenesis imperfecta, Antenatal fractures,
Bisphosphonates, Zoledronic acid, Neonatal bone fragility.
.png)
.jpg)
