Clewemar P, Hailer NP, Hailer Y, Klar J, Kindmark A, Ljunggren Ö, Stattin EL
Mol Genet Genomic Med 7 (7) e00723 [2019-07-00; online 2019-05-16]
Osteogenesis imperfecta (OI) is a clinical and genetic heterogeneous group of connective tissue disorders, characterized by bone fragility and a propensity to fracture. In this report we describe the clinical phenotype of two patients, a 28-year-old woman and her mother (54 years old), both with a history of short stature and multiple fractures. Exome sequencing revealed the recurring IFITM5:c.-14 C>T variant causing OI type V. Both patients had several fractures during childhood. CT-scan and scintigraphy showed ossification of the origin and attachment of muscles and hypertrophic callus formation. Ossification of the origin and attachment of muscles seems to be part of the phenotype in patients with OI type V.