Bone Abstracts

Introduction: Osteogenesis imperfecta (OI) is a genetically determined bone dysplasia characterised predominantlyby recurrent fractures, reduced bone mineral density and some clinical features connected with colagenopathy. However, not all patients have exhibit all this signs, and in this situation diagnosis may be difficult.

Aim: The aim of this work is to compare clinical symptoms of various types of osteogenesis imperfecta and to present diagnostic problems based on the analysis of patients in Poland supervised by our Department.

Patients and methods: Studies were performed in a group of 123 patients with the diagnosis of osteogenesis imperfecta (type I – 54 children, type II – 2, type III – 41, type IV – 26), aged between 1 week old and 18 years old, 58 girls and 65 boys. A survey regarding complaints present in patients, diagnostic tests performed so far and treatment applied as well paediatric and anthropometric examinations were performed. Moreover, a bone densitometry scan was performed using dual-energy X-ray absorptiometry (DXA).

Results: Recurrent bone fractures were observed in 100/123 (81%) subjects. The total number of fractures ranged between 0 and 40; however, there were no statistically significant differences regarding the absolute number of fractures between different types. Skeletal deformations were present in 70/123 (60%) subjects, and the most frequently in patients with type II and III. Bluish sclera were observed in 101/123 (82%) subjects. Dentinogenesis imperfecta was diagnosed only in 28/123 (22%) patients. Statistically significantly lower bone mineral density was demonstrated in patients with type III, and the best bone mineral density was observed in patients with type I (P<0.05).

Conclusions:
• Osteogenesis imperfecta is a heterogeneous group of skeletal disorders associated with increased predisposition to fractures, and characterised by significant variation of symptoms in individual types the disease.

• Clear diagnosis and prognosis can be difficult in some patients, due to the “overlapping “ of symptoms in some types of OI (I and IV, II and III, III and IV) and the modifying effect of implemented treatment.

Acknowledgements: The paper has been financedusing funds of the statutory work No. 503/1-090-02/503-11-02 and as a part of the NN407 060 938 grant.

Disclosure: The authors declared no competing interests.