Variability of osteogenesis imperfecta manifestations depending on gender: case report
Authors:
Štěpán Jakub; Kužma Martin; Killinger Zdenko; Payer Juraj
Authors place of work:
V. interná klinika LF UK a UNB, Nemocnica Ružinov, Bratislava
Published in the journal:
Clinical Osteology 2019; 24(1): 36-41
Category:
Kazuistika
Summary
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.
Keywords:
bisphosphonates – bone dysplasia – osteogenesis imperfecta
Zdroje
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Štítky
Biochemie Dětská gynekologie Dětská radiologie Dětská revmatologie Endokrinologie Gynekologie a porodnictví Interní lékařství Ortopedie Praktické lékařství pro dospělé Radiodiagnostika Rehabilitační a fyzikální medicína Revmatologie Traumatologie OsteologieČlánek vyšel v časopise
Clinical Osteology
2019 Číslo 1
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