Challenges in managing osteogenesis imperfecta in a resource-limited setting: a case report

Area of Science:

• Medical Genetics
• Pediatric Medicine
• Rare Diseases

Background:

• Osteogenesis imperfecta (OI) is a rare inherited connective tissue disorder characterized by excessive bone fragility due to collagen production defects.
• Most OI cases are autosomal dominant, with 17 identified genetic causes.
• Diagnosis relies on clinical presentation and low bone mineral density; treatments include bisphosphonates, vitamin C, pamidronate, teriparatide, and denosumab.

Purpose of the Study:

• To present a case of neonatal osteogenesis imperfecta.
• To emphasize the importance of early diagnosis and clinical awareness for rare genetic disorders.

Main Methods:

• A case report of a 3-week-old female neonate of African ethnicity diagnosed with osteogenesis imperfecta.
• Diagnosis was based on clinical examination (short, deformed limbs; soft head; bluish eyes) and radiological findings (multiple bone discontinuities).

Main Results:

• The neonate presented with characteristic clinical features and radiological evidence of multiple bone fractures.
• Despite supportive care, the neonate unfortunately passed away before orthopedic consultation.

Conclusions:

• This case highlights the critical need for early diagnosis of osteogenesis imperfecta.
• Increased clinical awareness, specialized training, and resource allocation are essential for managing rare genetic disorders in low-resource settings.