BackgroundOsteogenesis imperfecta (OI), commonly called “brittle bone disease”, is a genetic disorder characterised by increased bone fragility and decreased bone density due to quantitative and/or qualitative abnormalities of type I collagen. Different types of OI exist, from mild to severe; they may lead to death, multiple bone fractures, skeletal deformity and short stature.MethodsSevere cases are usually diagnosed before birth and may incite the parents to choose therapeutic abortion, whereas milder cases are much more difficult to diagnose and may be sometimes confused with non-accidental injury (NAI) (“child abuse”) in young children. Whatever the degree of severity, conventional radiography still remains the mainstay in diagnosing OI.ResultsThe prognosis of this disorder has changed in the last few years thanks to biphosphonate therapy.ConclusionThe aim of this pictorial review is to illustrate the radiographic manifestations of OI, including in children receiving biphosphonates, and to outline specific patterns that help differentiate OI from NAI when necessary.Key Points• The main radiographic features of OI are osteopenia, bone fractures and bone deformities.• Some radiographic features depend on the type of OI or may be encountered with biphosphonates.
BackgroundOsteogenesis imperfecta (OI), commonly called “brittle bone disease”, is a genetic disorder characterised by increased bone fragility and decreased bone density due to quantitative and/or qualitative abnormalities of type I collagen. Different types of OI exist, from mild to severe; they may lead to death, multiple bone fractures, skeletal deformity and short stature.MethodsSevere cases are usually diagnosed before birth and may incite the parents to choose therapeutic abortion, whereas milder cases are much more difficult to diagnose and may be sometimes confused with non-accidental injury (NAI) (“child abuse”) in young children. Whatever the degree of severity, conventional radiography still remains the mainstay in diagnosing OI.ResultsThe prognosis of this disorder has changed in the last few years thanks to biphosphonate therapy.ConclusionThe aim of this pictorial review is to illustrate the radiographic manifestations of OI, including in children receiving biphosphonates, and to outline specific patterns that help differentiate OI from NAI when necessary.Key Points• The main radiographic features of OI are osteopenia, bone fractures and bone deformities.• Some radiographic features depend on the type of OI or may be encountered with biphosphonates.
“…Our cohort has slightly lower rates of these features, which are known to develop over time, and our lower frequencies may represent a younger overall cohort. Nevertheless, the numbers are reasonably similar and suggest that cervical kyphosis is likely present in a broader population of patients with type 5 OI ( Fitzgerald et al, 2013 ; Shapiro et al, 2013 ; Cheung et al, 2007 ; Hui et al, 2011 ). Other craniocervical abnormalities, such as basilar invagination (BI), are associated with OI ( Sillence, 1994 ).…”
Objectives
Osteogenesis imperfecta (OI) is a heterogeneous group of genetic disorders of connective tissue that cause skeletal fragility and extra-skeletal manifestations. Classically, four different types of OI were distinguished. Type 5 OI was added due to its distinct clinical and radiographic features. In 2012, two independent groups identified a recurrent heterozygous c.-14C>T mutation in
IFITM5
as the responsible genetic change for this type of OI. To our knowledge, cervical kyphosis has not been identified in the literature as a finding in type 5 OI patients. This is a retrospective review of a cohort of patients with type 5 OI and a description of associated cervical spine deformity.
Methods
After institutional review board approval, a retrospective review identified 13 patients with type 5 OI. Clinical, radiologic, and genetic data from 2002 to 2020 were reviewed.
Results
We identified 13 patients with clinical diagnosis of type 5 OI. Twelve had molecular confirmation and the classic
IFITM5
, c.14C>T gene mutation was identified. The remaining individual did not undergo genetic testing. Dentinogenesis imperfecta was observed in one patient, while blue sclerae or hearing loss were not present. All patients had at least one fracture and four underwent intramedullary rodding. Radiologic features included subphyseal metaphyseal radiodense line in 12/13 patients (92%), interosseous membrane calcification in seven of 13 patients (54%) (more commonly noted in the upper extremities), and hypertrophic callus in six of 13 patients (46%). Thoracolumbar spinal deformities were seen in six of 13 patients (46%) with two of these individuals requiring surgery. Cervical kyphosis was noted in nine of 13 individuals (69%) ranging in age from 3 months to 22 years. Anterior wedging of the cervical vertebral bodies was noted in the absence of any fractures. Six of nine individuals demonstrated listhesis of C2-C3 or C3-C4 segment. Magnetic resonance imaging studies were performed and reviewed in patients with cervical kyphosis and subluxation; three patients showed narrowing of spinal canal without cervical cord compression and one asymptomatic patient showed impingement of the spinal cord.
Conclusions
Cervical kyphosis appears to be a common feature of type 5 OI. It can be a presenting and apparently life-long association and does not appear to be caused by vertebral body fractures. Evaluation for cervical kyphosis should be performed in patients with a suspected or confirmed diagnosis of type 5 OI. Furthermore, if cervical kyphosis is noted in an individual with OI, type 5 OI should be considered.
Level of evidence: IV.
“…Clinically, calcification of the forearm interosseous membrane in OI type V significantly increases radial head dislocation. 32 Nursemaid elbow secondary to a parent pulling on the child's arm by the wrist or hand should also be considered in the case of radial head dislocation. Fig.…”
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