Osteogenesis Imperfecta Diagnosed in an Active Duty Female Due to CREB3L1 Heterozygosity.

INTRODUCTION

Osteogenesis imperfecta (OI) is a heritable, collagen-related disorder with varying degrees of disease severity and systemic involvement. The hallmark of OI is bone matrix fragility, but diverse effects related to structural integrity and impaired development of connective tissue can account for hearing loss, blue sclera, dentinogenesis imperfecta, frequent fractures, joint hypermobility, and cardiac valve or vessel fragility in some cases. There is emerging recognition of unique genetic mutations leading to OI including CREB3L1, which codes for an important transcription factor for differentiation of osteoblasts.

CASE PRESENTATION

We present a case of OI diagnosed in an active duty female with multiple prior fractures and heterozygous CREB3L1, a rare cause of OI.

CONCLUSION

This case highlights the importance of consideration of the variable phenotypes of OI and careful assessment of fracture history during evaluation at the Military Entrance Processing Station and subsequent encounters at military treatment facilities to improve readiness.