REMOVED: A radiological case series of three siblings with osteogenesis imperfecta and shared paternal inheritance

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Authors: Dario Agustinus Nelwan, Muhammad ILYAS, Rafikah Rauf, Stella Clarissa, Muhammad Fauzi Mochtar
Cited by: 0
References: 9

Abstract

Osteogenesis imperfecta (OI), or brittle bone disease, is a genetically inherited connective tissue syndrome that manifests through autosomal dominant or recessive patterns. We present an unusual case involving three siblings with the same father but different mothers. The patients had extremely short stature, recurrent fractures, and varying degrees of severity of OI, in addition to distinctive features such as blue sclera and dentinogenesis imperfecta. The radiographic skeletal surveys revealed the characteristic features of OI in all three siblings. The patients exhibited Wormian bones, multiple fractures with callus formation, bowing of the long bones, accordion ribs, platyspondyly, and kyphoscoliosis. The patients were admitted for inpatient administration of two doses of intravenous zoledronic acid, allowing for monitoring of potential adverse effects. At the 7-month follow-up, the patients reported a reduction in fractures and a notable improvement in their ability to perform daily activities, including the capacity to sit without assistance. The patients did not experience any significant adverse effects from the zoledronic acid. Radiology is vital for diagnosing OI as it highlights the unique skeletal patterns, assists in identifying the specific OI phenotype, and evaluates the severity, particularly when genetic testing is inaccessible.

Fields of Study & Subjects

Connective tissue disorders research Dermatological and Skeletal Disorders Congenital limb and hand anomalies

Publication details

Journal / source
Radiology Case Reports
Volume
21
Issue
5
Pages
1777–1782
Publication date
11 February 2026
Language
EN