Variability of osteogenesis imperfecta manifestations depending on gender: case report

Authors: Štěpán Jakub;  Kužma Martin;  Killinger Zdenko;  Payer Juraj
Authors‘ workplace: V. interná klinika LF UK a UNB, Nemocnica Ružinov, Bratislava
Published in: Clinical Osteology 2019; 24(1): 36-41


Osteogenesis imperfecta is a rare bone dysplasia with both autosomal dominant and autosomal recessive forms of inheritance. Our case presents two siblings of opposite sex with this disorder whose clinical picture and manifestation of the disease in spite of close relationship are different. The case also points out the results of five year treatment of these individuals with regards to differences between oral and intravenous use of bisphosphonates.


bisphosphonates – bone dysplasia – osteogenesis imperfecta

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Clinical biochemistry Paediatric gynaecology Paediatric radiology Paediatric rheumatology Endocrinology Gynaecology and obstetrics Internal medicine Orthopaedics General practitioner for adults Radiodiagnostics Rehabilitation Rheumatology Traumatology
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