<i>IFITM5</i>-related (type V) osteogenesis imperfecta with evidence of perinatal involvement: A case report.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 38681748.
- Also identified by DOI 10.1016/j.bonr.2024.101766 and PMC identifier 11052912.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Osteogenesis imperfecta (OI) is a rare hereditary disorder characterized by bone fragility and frequent fractures. While most cases are attributed to variations in collagen-coding genes <i>COL1A1</i> and <i>COL1A2</i>, other genes such as <i>IFITM5</i> have also been associated with the disease, accounting for up to 5 % of cases. Here, we report a case of a 3-month-old female with a femur fracture and limb deformity. X-rays revealed evidence of osteopenia and previous fractures in the arms, clavicle, ribs, and left limb, alongside prenatal bone deformities detected by ultrasound. Initial clinical evaluation suggested progressively deforming (Sillence's type III) osteogenesis imperfecta (OI). Molecular testing led to the diagnosis of <i>IFITM5</i>-related OI, identifying the c.-14C>T (rs587776916) variant. Although this variant has been previously reported in patients with <i>IFITM5</i>-related OI, prenatal involvement had not been associated with this variant.