Expanding the phenotype of SPARC-related Osteogenesis Imperfecta: Clinical findings in two patients with pathogenic variants in SPARC and literature review

In this manuscript, we describe two individuals with a very rare form of osteogenesis imperfecta (OI, also known as brittle bone disease) caused due to faults within SPARC gene. There are only a handful of patients described in the literature with this OI type and all these patients have significant fractures, curvature of spine and developmental delay. We have identified significant neuromuscular weakness as an initial presentation with this form of OI that doctors should look out for. This will allow early treatment options such as bisphosphonates to be started and ensure the spine is carefully monitored for increasing curvature. (By Dr Meena Balasubramanian, https://jmg.bmj.com/content/early/2021/08/29/jmedgenet-2021-107942 )

Drs. Meena Balasubramanian(far left) and Catherine DeVile (second author) with members of Brittle Bone Society

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