Surgical treatment of comminuted intraarticular distal femur fracture in patient with osteogenesis imperfecta type I

Aim. Osteogenesis imperfecta (OI) is characterized by bone fragility and long bones deformities. Most studies are dedicated to surgical treatment of diaphyseal fractures. To our knowledge, there are no reports giving recommendations about surgical treatment of distal femur intraarticular fractures. Clinical case. We describe the surgical treatment of a 14-year-old girl with OI who had intraarticular fracture of the left distal femur and fracture of a right femur diaphysis. Surgical treatment was complicated by migration of a titanium elastic nail and impaired consolidation, which had to be fixed with a plate and led to peri-implant fracture. Results were assessed before trauma and at 1 and 2 years after trauma with Gillette Functional Assessment Questionnaire (GFAQ) and Bleck score. Discussion. During surgical treatment of comminuted intraarticular distal femur fractures in patients with OI, we had to use big cancellous screw that made implantation in an intramedullary fixator more difficult. Internal fixation with a plate in patients with OI is associated with high risks of peri-implant fracture. Conclusion. For treatment of comminuted intraarticular fracture of the distal femur, it is necessary to have large variety of internal fixators, follow the principles of absolute and relative stability, and be familiar with minimally-invasive techniques.

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A novel transgenic murine model with persistently brittle bones simulating osteogenesis imperfecta type I

Bone ◽

10.1016/j.bone.2019.07.021 ◽

2019 ◽

Vol 127 ◽

pp. 646-655 ◽

Cited By ~ 3

Author(s):

Yi Liu ◽

Jianhai Wang ◽

Shuo Liu ◽

Mingjie Kuang ◽

Yaqing Jing ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Murine Model ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Transgenic Murine Model ◽

Brittle Bones ◽

Osteogenesis Imperfecta Type I

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Restoration of Osteogenesis by CRISPR/Cas9 Genome Editing of the Mutated COL1A1 Gene in Osteogenesis Imperfecta

Journal of Clinical Medicine ◽

10.3390/jcm10143141 ◽

2021 ◽

Vol 10 (14) ◽

pp. 3141

Author(s):

Hyerin Jung ◽

Yeri Alice Rim ◽

Narae Park ◽

Yoojun Nam ◽

Ji Hyeon Ju

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Disease Modeling ◽

Bone Fragility ◽

Osteogenic Potential ◽

Type I ◽

Gene Correction ◽

Col1a1 Gene ◽

Collagen Formation

Osteogenesis imperfecta (OI) is a genetic disease characterized by bone fragility and repeated fractures. The bone fragility associated with OI is caused by a defect in collagen formation due to mutation of COL1A1 or COL1A2. Current strategies for treating OI are not curative. In this study, we generated induced pluripotent stem cells (iPSCs) from OI patient-derived blood cells harboring a mutation in the COL1A1 gene. Osteoblast (OB) differentiated from OI-iPSCs showed abnormally decreased levels of type I collagen and osteogenic differentiation ability. Gene correction of the COL1A1 gene using CRISPR/Cas9 recovered the decreased type I collagen expression in OBs differentiated from OI-iPSCs. The osteogenic potential of OI-iPSCs was also recovered by the gene correction. This study suggests a new possibility of treatment and in vitro disease modeling using patient-derived iPSCs and gene editing with CRISPR/Cas9.

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Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2013-3209 ◽

2014 ◽

Vol 99 (2) ◽

pp. E356-E362 ◽

Cited By ~ 26

Author(s):

Louis-Nicolas Veilleux ◽

Martin Lemay ◽

Annie Pouliot-Laforte ◽

Moira S. Cheung ◽

Francis H. Glorieux ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Muscle Function ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Osteogenesis Imperfecta Type I

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Type I Collagen Biosynthesis by Skin Fibroblasts from Patients with Idiopathic Juvenile Osteoporosis

Clinical Science ◽

10.1042/cs0890069 ◽

1995 ◽

Vol 89 (1) ◽

pp. 69-73 ◽

Cited By ~ 7

Author(s):

Andrew E. Pocock ◽

Martin J. O. Francis ◽

Roger Smith

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

The Other ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Unrelated Control ◽

Type Iii ◽

Collagen Peptides ◽

Idiopathic Juvenile Osteoporosis ◽

Osteogenesis Imperfecta Type I

1. Skin fibroblast lines were cultured from nine patients who had the features of idiopathic juvenile osteoporosis, six relatives, five unrelated control subjects and three unrelated patients with osteogenesis imperfecta type I. Some patients with idiopathic juvenile osteoporosis were adults whose previous osteoporosis was in remission. Two patients with idiopathic juvenile osteoporosis were siblings and one patient with idiopathic juvenile osteoporosis had a daughter with severe osteogenesis imperfecta (type III). 2. The ratio of type III to type I collagen, synthesized by fibroblasts, was increased in two of the patients with osteogenesis imperfecta type I and in the daughter with osteogenesis imperfecta type III, but was normal in all the other patients with idiopathic juvenile osteoporosis and the other relatives. 3. Radiolabelled collagen was digested by cyanogen bromide and separated on SDS-PAGE. Unreduced collagen peptides migrated normally, except those from both the two siblings with idiopathic juvenile osteoporosis. In these two lines, abnormal migration suggested the presence of collagen I mutations. 4. The secretion of synthesized collagen by these two idiopathic juvenile osteoporosis lines and two others was reduced to only 43–45% as compared with a line from a 13-year-old control subject, which was defined as 100%. The three osteogenesis imperfecta type I lines secreted 18–37%, the other five idiopathic juvenile osteoporosis lines secreted 57–75%, the relatives (including the daughter with severe osteogenesis imperfecta) secreted 49–115% and the controls secreted 69–102%. 5. We conclude that qualitative abnormalities of type I collagen associated with a reduction in total secreted collagen synthesis may occur in a minority of patients with idiopathic juvenile osteoporosis; these patients could represent a subset of patients with this disorder.

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