Open AccessExpanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
Author(s) -
Clewemar Pantelis,
Hailer Nils P.,
Hailer Yasmin,
Klar Joakim,
Kindmark Andreas,
Ljunggren Östen,
Stattin EvaLena
Publication year - 2019
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.723
Subject(s) - osteogenesis imperfecta , heterotopic ossification , ossification , medicine , fibrodysplasia ossificans progressiva , exome sequencing , phenotype , short stature , connective tissue , genetic heterogeneity , osteochondrodysplasia , skull , myositis ossificans , pathology , anatomy , pediatrics , genetics , biology , gene
Background Osteogenesis imperfecta (OI) is a clinical and genetic heterogeneous group of connective tissue disorders, characterized by bone fragility and a propensity to fracture. Methods 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. Results 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. Conclusion Ossification of the origin and attachment of muscles seems to be part of the phenotype in patients with OI type V.