6,003 results match your criteria Osteogenesis Imperfecta

Clinical, genetic characteristics and treatment outcomes of children and adolescents with osteogenesis imperfecta: a two-center experience.

Connect Tissue Res 2021 Jun 9:1-10. Epub 2021 Jun 9.

Division of Pediatric Endocrinology, Faculty of Medicine, Aydın Adnan Menderes University, Aydın, Turkey.

: Osteogenesis imperfecta (OI), is a heritable, heterogeneous connective tissue disorder, characterized by fragile bones. There are conflicting results about genotype-phenotype correlations and efficiency of bisphosphonate treatment in this disorder.: We aimed to evaluate the clinical, genetic characteristics, and long-term follow-up results of children and adolescents with OI. Read More

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Hip Arthroplasty in Patients with Osteogenesis Imperfecta.

JBJS Rev 2021 06 8;9(6). Epub 2021 Jun 8.

Arthroplasty Unit, Division of Orthopaedic Surgery, Charlotte Maxeke Johannesburg Academic Hospital, University of the Witwatersrand, Johannesburg, South Africa.

»: Osteogenesis imperfecta (OI) is a rare congenital disorder that affects connective tissue.

»: Modern medicine has mitigated the mortality that is associated with OI, allowing patients to live a near-normal life span.

»: The degenerative process in OI is probably accelerated because of subclinical intra-articular fractures, joint laxity, and distorted femoral and acetabular anatomy. Read More

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Lumbar Scheuermann's disease found in a patient with osteogenesis imperfecta (OI) caused by a heterozygous mutation in COL1A2 (c.4048G > A): a case report.

BMC Musculoskelet Disord 2021 Jun 7;22(1):525. Epub 2021 Jun 7.

Department of Endocrinology and Metabolism, Institute of Endocrinology, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Affiliated Hospital of China Medical University, Shenyang, P. R. China.

Background: Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by increased bone fragility and a series of extraskeletal manifestations. Approximately 90 % of OI cases are caused by type I collagen variants encoded by the collagen type I alpha 1 (COL1A1) or type I alpha 2 (COL1A2) gene. Lumbar Scheuermann's disease is an atypical type of Scheuermann's disease accompanied by Schmorl's nodes and irregular endplates but without pronounced kyphosis. Read More

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Surgical Outcome of Spinal Fusion for Osteogenesis Imperfecta With Scoliosis: Is the Hybrid System With Pedicle Screws Applicable to Weak, Tiny, and Fragile Vertebrae?

J Pediatr Orthop 2021 Jul;41(6):368-373

Department of Orthopaedic Surgery, National Hospital Organization Kobe Medical Center.

Introduction: Corrective surgery for spinal deformity associated with osteogenesis imperfecta (OI) is challenging due to the severe and rigid deformity combined with extreme bone fragility. However, surgical outcomes still remain unclear. In addition, the applicability of pedicle screws (PSs) to the tiny and fragile vertebrae in patients with OI is poorly understood. Read More

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Radiation Reduction Strategies in Pediatric Orthopaedics.

Jeffrey R Sawyer

J Pediatr Orthop 2021 Jul;41(Suppl 1):S75-S79

Department of Orthopaedic Surgery, University of Tennessee/Campbell Clinic, Memphis, TN.

Introduction: Pediatric orthopaedic patients have the potential for significant radiation exposure from the use of imaging studies, such as computed tomography and bone scintigraphy. With the potential for long-term treatment, such as is required for scoliosis or osteogenesis imperfecta, patients are at even greater risk of radiation-induced carcinogenesis.

Discussion: Although an association between radiation and cancer risk is evident, causation is difficult to prove because comorbidities or genetic predispositions may play a role in the higher baseline rates of malignancy later in life. Read More

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Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked Osteogenesis Imperfecta.

Front Genet 2021 21;12:662751. Epub 2021 May 21.

Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.

Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by low bone density, bone fragility and recurrent fractures. The characterization of its heterogeneous genetic basis has allowed the identification of novel players in bone development. In 2016, we described the first X-linked recessive form of OI caused by hemizygous missense variants resulting in moderate to severe phenotypes. Read More

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Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history.

Arch Osteoporos 2021 Jun 5;16(1):88. Epub 2021 Jun 5.

Division of Orthopedics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

We assessed the diagnostic utility of genetic panel testing to detect pathogenic variants associated with osteogenesis imperfecta in children presenting with multiple fractures. Thirty-five percent of children had a pathogenic variant. A history of a femur fracture or a first fracture occurring under 2 years of age were significant clinical predictors. Read More

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Effects of WNT1 c.110 T>C and c.505G>T mutations on osteoblast differentiation via the WNT1/β-catenin signaling pathway.

J Orthop Surg Res 2021 Jun 2;16(1):359. Epub 2021 Jun 2.

Clinical Laboratory, Affiliated Dongguan People's Hospital, Southern Medical University, No.3 Xinguchong Wandao South Road, Wangjiang District, Dongguan, 523059, China.

Background: WNT1 c.110 T>C and c.505G>T missense mutations have been identified in patients with osteogenesis imperfecta (OI). Read More

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Patterns of femoral neck fracture and its treatment methods in patients with osteogenesis imperfecta.

J Pediatr Orthop B 2021 May 28. Epub 2021 May 28.

Division of Pediatric Orthopaedics, Seoul National University Children's Hospital Department of Emergency Medicine, Seoul National University Children's Hospital, Seoul Department of Orthopaedic Surgery, Wonju Severance Christian Hospital, Wonju College of Medicine Yonsei University, Wonju Department of Orthopaedic Surgery, Jeju National University Hospital, Jeju Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea.

Femoral neck fracture (FNF) is not common in osteogenesis imperfecta patients but may result in serious complications if not properly treated in due time. We present three types of FNF in osteogenesis imperfecta and their characteristics, treatment methods and outcomes. Cases of FNF followed for more than 2 years were selected from the osteogenesis imperfecta database. Read More

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Calvaria Bone Transcriptome in Mouse Models of Osteogenesis Imperfecta.

Int J Mol Sci 2021 May 18;22(10). Epub 2021 May 18.

Shriners Hospital for Children-Canada, Montreal, QC H4A 0A9, Canada.

Osteogenesis imperfecta (OI) is a bone fragility disorder that is usually caused by mutations affecting collagen type I. We compared the calvaria bone tissue transcriptome of male 10-week-old heterozygous Jrt ( mutation) and homozygous mice ( mutation) to their respective littermate results. We found that Jrt and mice shared 185 differentially expressed genes (upregulated: 106 genes; downregulated: 79 genes). Read More

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Tissue Engineering Through 3D Bioprinting to Recreate and Study Bone Disease.

Biomedicines 2021 May 14;9(5). Epub 2021 May 14.

Department of Biomedical and Pharmaceutical Sciences, Idaho State University, Pocatello, ID 83209, USA.

The applications of 3D bioprinting are becoming more commonplace. Since the advent of tissue engineering, bone has received much attention for the ability to engineer normal bone for tissue engraftment or replacement. While there are still debates on what materials comprise the most durable and natural replacement of normal tissue, little attention is given to recreating diseased states within the bone. Read More

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Current Overview of Osteogenesis Imperfecta.

Medicina (Kaunas) 2021 May 10;57(5). Epub 2021 May 10.

Department of Obstetrics & Gynecology, Shiga University of Medical Science, Otsu 520-2192, Shiga, Japan.

Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder characterised by bone fragility, multiple fractures, bone deformity, and short stature. OI is a heterogeneous disorder primarily caused by mutations in the genes involved in the production of type 1 collagen. Severe OI is perinatally lethal, while mild OI can sometimes not be recognised until adulthood. Read More

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Impact of Intrinsic Muscle Weakness on Muscle-Bone Crosstalk in Osteogenesis Imperfecta.

Int J Mol Sci 2021 May 7;22(9). Epub 2021 May 7.

Department of Biochemistry, University of Missouri, Columbia, MO 65211, USA.

Bone and muscle are highly synergistic tissues that communicate extensively via mechanotransduction and biochemical signaling. Osteogenesis imperfecta (OI) is a heritable connective tissue disorder of severe bone fragility and recently recognized skeletal muscle weakness. The presence of impaired bone and muscle in OI leads to a continuous cycle of altered muscle-bone crosstalk with weak muscles further compromising bone and vice versa. Read More

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Retrosigmoid microvascular decompression as a treatment for trigeminal neuralgia in a patient with osteogenesis imperfecta.

Br J Neurosurg 2021 May 31:1-3. Epub 2021 May 31.

Department of Neurological Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

Individuals with osteogenesis imperfecta develop pathologic bone due to genetic defects in collagen synthesis. These patients are prone to skull base abnormalities with resultant lower cranial nerve deficits, most common of which is trigeminal neuralgia. Typically, such patients are managed medically, and surgical options are not well explored for those patients, who become refractory to medication management. Read More

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Tendon and motor phenotypes in the mouse model of recessive osteogenesis imperfecta.

Elife 2021 May 26;10. Epub 2021 May 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.

Osteogenesis imperfecta (OI) is characterized by short stature, skeletal deformities, low bone mass, and motor deficits. A subset of OI patients also present with joint hypermobility; however, the role of tendon dysfunction in OI pathogenesis is largely unknown. Using the mouse model of severe, recessive OI, we found that mutant Achilles and patellar tendons were thinner and weaker with increased collagen cross-links and reduced collagen fibril size at 1- and 4-months compared to wildtype. Read More

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Detection of a Recurrent TMEM38B Gene Deletion Associated with Recessive Osteogenesis Imperfecta.

Discoveries (Craiova) 2021 Mar 31;9(1):e124. Epub 2021 Mar 31.

College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

Osteogenesis imperfecta is a clinically and genetically group of heterogeneous disorders associated with decreased bone density, brittle bones, bone deformity, recurrent fractures, and growth retardation. Osteogenesis imperfecta is commonly associated with mutations of the genes encoding for type I collagen (COL1A1/COL1A2). Mutations in other genes, some associated with type I collagen post-translational processing, have also been identified as the cause of osteogenesis imperfecta. Read More

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COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.

Front Genet 2021 7;12:640558. Epub 2021 May 7.

Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

Collagen type I mutations are related to wide phenotypic expressions frequently causing an overlap of clinical manifestations, in particular between Osteogenesis Imperfecta (OI) and Ehlers-Danlos syndrome (EDS). Both disorders present inter- and intra-familial clinical variability and several clinical signs are present in both diseases. Recently, after the observation that some individuals first ascertained by a suspicion of EDS resulted then carriers of pathogenic variants of genes known to primarily cause OI, some authors proposed the term "COL1-related overlap disorder" to describe these cases. Read More

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Metabolic Bone Diseases in the Pediatric Population.

Semin Musculoskelet Radiol 2021 Feb 21;25(1):94-104. Epub 2021 May 21.

Department of Clinical and Experimental Medicine, Foggia University School of Medicine, Foggia, Italy.

Bone plays an important role in regulating mineral balance in response to physiologic needs. In addition, bone is subject to a continuous remodeling process to maintain healthy bone mass and growth. Metabolic bone diseases are a heterogeneous group of diseases caused by abnormalities of bone mass, mineral structure homeostasis, bone turnover, or bone growth. Read More

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February 2021

Missing and unerupted teeth in osteogenesis imperfecta.

Bone 2021 May 18;150:116011. Epub 2021 May 18.

Faculty of Dentistry, McGill University, Montreal, Quebec, Canada; College of Dental Medicine, QU Health, Qatar University, Doha, Qatar. Electronic address:

Introduction: Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and craniofacial and dental abnormalities such as congenitally missing teeth and teeth that failed to erupt which are believed to be doubled in OI patients than normal populations and were associated with low oral health quality of life. However, the etiology of these abnormalities remains unclear. To understand the factors influencing missing and unerupted teeth, we investigated their prevalence in a cohort of OI patients as a function of the clinical phenotype (OI type), the genetic variant type, the tooth type and the onset of bisphosphonate treatment. Read More

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Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.

Adv Clin Exp Med 2021 May 21. Epub 2021 May 21.

Department of Pediatrics and Rare Disorders, Wroclaw Medical University, Poland.

Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic etiology. The current classification of skeletal dysplasias distinguishes 461 diseases in 42 groups. The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. Read More

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Amelioration of osteogenesis in iPSC-derived mesenchymal stem cells from osteogenesis imperfecta patients by endoplasmic reticulum stress inhibitor.

Life Sci 2021 Aug 18;278:119628. Epub 2021 May 18.

Department of Clinical Microscopy, Faculty of Medical Technology, Mahidol University, Phutthamonthon, Nakhon Pathom 73170, Thailand. Electronic address:

Aim: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder primarily caused by mutations in COL1A1 or COL1A2, which encode type I collagen. These mutations affect the quantity and/or quality of collagen composition in bones, leading to bone fragility. Currently, there is still a lack of treatment that addresses disease-causing factors due to an insufficient understanding of the pathological mechanisms involved. Read More

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Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review.

Acta Ophthalmol 2021 May 19. Epub 2021 May 19.

Department of Internal Medicine, Section Endocrinology, Amsterdam Bone Center, Amsterdam University Medical Center, Amsterdam, The Netherlands.

Purpose: Osteogenesis imperfecta (OI) is a rare inherited heterogeneous connective tissue disorder characterized by bone fragility, low bone mineral density, skeletal deformity and blue sclera. The dominantly inherited forms of OI are predominantly caused by mutations in either the COL1A1 or COL1A2 gene. Collagen type I is one of the major structural proteins of the eyes and therefore is the eye theoretically prone to alterations in OI. Read More

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Osteogenesis Imperfecta: Mechanisms and signaling pathways connecting classical and rare OI types.

Endocr Rev 2021 May 19. Epub 2021 May 19.

Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous skeletal dysplasia characterized by bone fragility, growth deficiency and skeletal deformity. Previously known to be caused by defects in type I collagen, the major protein of extracellular matrix, it is now also understood to be a collagen-related disorder caused by defects in collagen folding, post-translational modification and processing, bone mineralization and osteoblast differentiation, with inheritance of OI types spanning autosomal dominant and recessive as well as X-linked recessive. This review provides the latest updates on OI, encompassing both classical OI and rare forms, their mechanism and the signaling pathways involved in their pathophysiology. Read More

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Three-Dimensional Printing and Computer Navigation for Correction of Multiple Deformities in Osteogenesis Imperfecta: A Case Report.

JBJS Case Connect 2021 05 18;11(2). Epub 2021 May 18.

Department of Orthopaedics and Traumatology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China.

Case: A 44-year-old man with osteogenesis imperfecta presented with multiple debilitating musculoskeletal deformities. Bi-level osteotomies, assisted by 3-dimensional (3D)-printed patient-specific cutting guides, were performed to correct extraarticular valgus and procurvatum tibial deformities. Concomitant computer-navigated total knee arthroplasty was performed to restore neutral mechanical alignment. Read More

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Genetic causes of fractures and subdural hematomas: fact versus fiction.

Pediatr Radiol 2021 May 17;51(6):1029-1043. Epub 2021 May 17.

George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

Genetic disorders are in the differential diagnosis when young children present with unexplained fractures or intracranial hemorrhage. For medical and legal reasons, it is imperative to make the correct diagnosis and provide clear, evidence-based explanations of how alternative diagnoses were ruled out. A genetics consultation in cases of suspected child physical abuse should synthesize the history of present illness, medical history, family history, physical examination, and radiologic and laboratory findings in consultation with other specialists. Read More

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Osteogenesis imperfecta-related skin features mimicking Cushing's syndrome.

Endocrine 2021 May 13. Epub 2021 May 13.

Endocrinology Department, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal.

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Denosumab for the treatment of primary pediatric osteoporosis.

Osteoporos Int 2021 May 13. Epub 2021 May 13.

Center for Bone Quality, Department of Internal Medicine, Section Endocrinology, Leiden University Medical Center, Leiden, The Netherlands.

Primary osteoporosis is rare in children and adolescents and its optimal pharmacological management is uncertain. Bisphosphonates are commonly used while denosumab has only been administered to a few children with osteogenesis imperfecta. We studied a treatment-naïve 13. Read More

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Enhancing osteogenesis of adipose-derived mesenchymal stem cells using gold nanostructure/peptide-nanopatterned graphene oxide.

Colloids Surf B Biointerfaces 2021 Apr 29;204:111807. Epub 2021 Apr 29.

School of Integrative Engineering, Chung-Ang University, Seoul, Republic of Korea; Integrative Research Center for Two-Dimensional Functional Materials, Institute of Interdisciplinary Convergence Research, Chung-Ang University, Seoul, Republic of Korea. Electronic address:

Graphene derivatives are highly promising materials for use in stem-cell-based regenerative therapies, particularly for bone regeneration. Herein, we report a graphene oxide (GO)-based hybrid platform (GOHP) that is highly effective for guiding the osteogenesis of human adipose-derived mesenchymal stem cells (hAMSCs). A GO-coated indium tin oxide (ITO) substrate was electrochemically modified with Au nanostructures (GNSs), following which a cysteine-modified quadruple-branched arginine-glycine-aspartic acid was self-assembled on the ITO-GO-GNS hybrid via Au-S bonds. Read More

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