Bone Abstracts

Fractures of long bone and ribs in the neonatal period may be expression of genetic disturbances of collagen type I production. The aim of the study was to present clinical symptoms, laboratory, radiological and densitometric data in 27 newborns with osteogenesis imperfecta type III.

Methods: Medical history, clinical examination and radiographs of 27 children hospitalized in the Department of Paediatrics, Neonatal Pathology and Bone Metabolism Diseases were evaluated. Serum levels of 25-hydroxyvitamin D (25OHD) and osteocalcin (bone formation marker) of the patients were measured. Assessment of urine excretion of bone resorption marker D-Pyrylinks was made. All of the newborns were qualified to pamidronate therapy and the treatment was commenced. After the first cycle of pamidronate, densitometric examination in Infant programme by dual-X-Ray absorptiometry (DXA method) was performed.

Results: In every family of evaluated patients osteogenesis imperfecta occurred by the first time. In clinical examination the disease was manifested by deformations in body proportions: shortened extremities, sabre shanks, flabby skull bones and reduction in activity. 23 of 27 children had blue sclera. In all X-ray baby-graphs bone fractures, developed in utero as well as after birth, were found. From biochemical tests only a few abnormalities were observed, such as lowered concentration of serum 25OHD in 9 of 27 patients. Due to orthopedic care of the multiple fractures DXA method is hard to obtain during first hospitalization, so that it is performed before second cycle of pamidronate.

Conclusion: 1. Osteogenesis imperfecta is one of the reasons of bone fractures in neonates and its diagnosis is based on family history, clinical manifestation and X-ray examination.

2. Based on our experience Dual X-ray absorptiometry is useful for the pamidronate therapy monitoring, not for making the diagnosis of osteogenesis imperfecta.

Disclosure: The authors declared no competing interests.