1,235 results match your criteria Imaging in Osteogenesis Imperfecta


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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Radiation Reduction Strategies in Pediatric Orthopaedics.

Authors:
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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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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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

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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Case Report: Hyperplastic Callus of the Femur Mimicking Osteosarcoma in Osteogenesis Imperfecta Type V.

Front Endocrinol (Lausanne) 2021 15;12:622674. Epub 2021 Apr 15.

Department of Endocrine, Jiangxi Provincial People's Hospital Affiliated to Nanchang University, Nanchang, China.

Background: Osteogenesis imperfecta (OI) type V is a rare form of OI which is often characterized by hyperplastic callus. Misdiagnosis is a possibility due to its rarity and because patients involved are mostly in adolescence, a predisposing age for osteosarcoma. Here, we report this case and aim to improve understanding of patients with OI type V and avoid misdiagnosis. Read More

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Increased Osteocyte Lacunae Density in the Hypermineralized Bone Matrix of Children with Osteogenesis Imperfecta Type I.

Int J Mol Sci 2021 Apr 26;22(9). Epub 2021 Apr 26.

1st Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, Hanusch Hospital, 1140 Vienna, Austria.

Osteocytes are terminally differentiated osteoblasts embedded within the bone matrix and key orchestrators of bone metabolism. However, they are generally not characterized by conventional bone histomorphometry because of their location and the limited resolution of light microscopy. OI is characterized by disturbed bone homeostasis, matrix abnormalities and elevated bone matrix mineralization density. Read More

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Mechanical Analysis of Explanted Telescopic Rods in the Management of Osteogenesis Imperfecta: A Multicenter Study.

J Pediatr Orthop 2021 Jul;41(6):e448-e456

Institute of Child Health, Great Ormond Street Hospital, London.

Background: Telescopic rods in the management of osteogenesis imperfecta fail frequently. This could be attributed to technical errors, rod design, and rod structure. We aimed to analyze the mechanical properties and tribology of explanted male and female components to identify effects of in vivo telescoping that may relate to observed patterns of successful telescoping or failure. Read More

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Analysis of bone architecture using fractal-based TX-Analyzer™ in adult patients with osteogenesis imperfecta.

Bone 2021 Jun 13;147:115915. Epub 2021 Mar 13.

Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Center Vienna-Meidling, Vienna, Austria; Hanusch Hospital Vienna, I Medical Department, Vienna, Austria; Sigmund Freud University Vienna, Medical Faculty of Bone Diseases, Vienna, Austria. Electronic address:

Background: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by impaired bone quality and quantity. Established imaging techniques have limited reliability in OI. The TX-Analyzer™ is a new, fractal-based software allowing a non-invasive assessment of bone structure based on conventional radiographs. Read More

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Three-dimensional versus two-dimensional postmortem ultrasound: feasibility in perinatal death investigation.

Pediatr Radiol 2021 Jun 5;51(7):1259-1266. Epub 2021 Mar 5.

Department of Clinical Radiology, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK.

Three- and four-dimensional US techniques in antenatal screening are commonplace, but they are not routinely used for perinatal postmortem US. In this technical innovation, we performed both two-dimensional (2-D) and three-dimensional (3-D) postmortem US on 11 foetuses (mean gestation: 23 weeks; range: 15-32 weeks) to determine whether there was any benefit in 3-D over conventional 2-D methods. In one case of osteogenesis imperfecta, both 2-D and 3-D US images were non-diagnostic because of small foetal size. Read More

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Intrafibrillar mineralization deficiency and osteogenesis imperfecta mouse bone fragility.

J Mech Behav Biomed Mater 2021 05 13;117:104377. Epub 2021 Feb 13.

Department of Mechanical Engineering, University of Texas at San Antonio, San Antonio, TX, USA. Electronic address:

Osteogenesis imperfecta (OI), a brittle bone disease, is known to result in severe bone fragility. However, its ultrastructural origins are still poorly understood. In this study, we hypothesized that deficient intrafibrillar mineralization is a key contributor to the OI induced bone brittleness. Read More

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Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype.

Osteoporos Int 2021 Jun 23;32(6):1239-1244. Epub 2021 Feb 23.

Department of Pediatrics, Section of Endocrinology, Yale School of Medicine, New Haven, CT, USA.

Osteogenesis imperfecta (OI) is characterized by bone fragility and increased fracture susceptibility. BMP1 variants have been reported in the rare OI type XIII, specifically referred to herein as BMP1-associated autosomal recessive (AR) OI. We report the clinical presentation and diagnostic evaluation of a patient found to have a novel homozygous variant in BMP1. Read More

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Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.

J Bone Miner Res 2021 Jun 19;36(6):1077-1087. Epub 2021 Mar 19.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Multiple genes are known to be associated with osteogenesis imperfecta (OI), a phenotypically and genetically heterogenous bone disorder, marked predominantly by low bone mineral density and increased risk of fractures. Recently, mutations affecting MESD, which encodes for a chaperone required for trafficking of the low-density lipoprotein receptors LRP5 and LRP6 in the endoplasmic reticulum, were described to cause autosomal-recessive OI XX in homozygous children. In the present study, whole-exome sequencing of three stillbirths in one family was performed to evaluate the presence of a hereditary disorder. Read More

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Imaging of pediatric bone and growth disorders: Of diagnostic workhorses and new horizons.

Wien Med Wochenschr 2021 Apr 11;171(5-6):102-110. Epub 2021 Feb 11.

Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.

Children and adolescents with bone and growth disorders require interdisciplinary care from various specialists including pediatric radiologists with a focus on musculoskeletal disorders. This article covers routine topics, differential diagnoses, and selected research imaging in children with osteogenesis imperfecta (OI), X‑linked hypophosphatemic rickets (XLH), achondroplasia, and other bone and growth disorders from the standpoint of a tertiary referral center. Read More

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Multisite longitudinal calibration of HR-pQCT scanners and precision in osteogenesis imperfecta.

Bone 2021 Jun 6;147:115880. Epub 2021 Feb 6.

Research Centre, Shriners Hospital for Children-Canada, Montreal, Canada; Department of Pediatric Surgery, McGill University, Montreal, Canada; Department of Biomedical Engineering, McGill University, Montreal, Canada. Electronic address:

Background: For high-resolution peripheral quantitative computed tomography (HR-pQCT) to be used in longitudinal multi-center studies to assess disease and treatment effects, data must be aggregated across multiple timepoints and scanners. This requires an understanding of the factors contributing to scanner precision, and multi-scanner cross-calibration procedures, especially for clinical populations with severe phenotypes, like osteogenesis imperfecta (OI).

Methods: To address this, we first evaluated single- and multi-center short- and long-term precision errors of standard HR-pQCT parameters. Read More

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Problems, Complications, and Factors Predisposing to Failure of Fassier-Duval Rodding in Children With Osteogenesis Imperfecta: A Double-center Study.

J Pediatr Orthop 2021 Apr;41(4):e347-e352

Department of Paediatric Orthopaedics and Traumatology, Poznań University of Medical Sciences, Poznań.

Background: Although Fassier-Duval (FD) rods have been used for almost 2 decades, knowledge of factors predisposing to their failure is limited. Thus, the purpose of this study was to: (1) present the most common complications of FD rodding, (2) present tips on how to avoid or overcome them, and (3) identify factors predisposing to treatment failure.

Methods: Fifty-eight rod segments in 19 patients with osteogenesis imperfecta (mainly type III) underwent analysis with a median follow-up (FU) time of 4. Read More

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Pseudo-Protrusio Acetabular Deformity in Osteogenesis Imperfecta Patients.

J Pediatr Orthop 2021 Mar;41(3):e285-e290

Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul.

Background: Osteogenesis imperfecta (OI) can develop a protrusio acetabuli deformity. However, the authors observed a pseudo-protrusio-type acetabular deformity (PPAD) on 3-dimensional computed tomography (3D-CT). Hence, we systematically reviewed 3D-CT and pelvis radiographs of OI patients and report the incidence and patterns of acetabular deformity in OI patients and the associated radiographic signs. Read More

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Bone density, fractures and the associated factors in iranian children and adolescent with Osteogenesis Imperfecta.

BMC Pediatr 2021 01 14;21(1):37. Epub 2021 Jan 14.

Shiraz Endocrinology and Metabolism Research Center, Shiraz University of Medical Sciences, P.O. Box: 71345-1744, Shiraz, Iran.

Backround: Osteogenesis imperfecta(OI) is a frequent bone fragility disorder in children. The purpose of this study was to assess the BMD and Vitamin D level in children with OI in southern Iran.

Method: This case-control study was conducted on 23 children, clinically diagnosed as osteogenesis imperfecta and 23 age- and gender-matched healthy controls. Read More

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January 2021

Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons.

J Transl Autoimmun 2021 20;4:100077. Epub 2020 Dec 20.

Division of Rheumatology, Allergy and Clinical Immunology, University of California, Davis, CA, USA.

Ehlers-Danlos Syndrome (EDS) is a family of multisystemic hereditary connective tissue disorders now comprised of 13 recognized subtypes, classical, classical-like, cardiac-valvular, vascular, hypermobile, arthrochlasia, dermosparaxis, kyphoscoliotic, brittle cornea syndrome, spondylodysplastic, musculocontractural, myopathic, and periodontal, as designated by the most recent 2017 International classification system. Clinical presentation of this disease can range from mild manifestations including skin hyperextensibility and joint hypermobility, to more severe complications such as vascular and organ rupture. While there may be accompanying inflammation in some of the subtypes of EDS, the pathogenic mechanisms have not been clearly defined. Read More

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December 2020

Hip Dysplasia and Osteogenesis Imperfecta: A Case Report.

JBJS Case Connect 2020 10 20;10(4):e20.00369. Epub 2020 Oct 20.

Geisinger Medical Center, Danville, Pennsylvania.

Case: A 1-week-old female patient presented to our clinic with bilateral dislocated hips and was subsequently treated in a Pavlik harness. Harness treatment failed requiring a closed reduction and spica cast application. In the Post-Anesthesia Care Unit (PACU), the patient was found to have a right humerus fracture. Read More

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October 2020

Preliminary Results of Subtalar Arthroereisis with Vulpius Procedure for Symptomatic Flatfoot in Patients with Type I Osteogenesis Imperfecta.

Int J Environ Res Public Health 2020 12 24;18(1). Epub 2020 Dec 24.

Department of Orthopedic Surgery, National Taiwan University Hospital, Taipei 100, Taiwan.

In this retrospective study, we aim to assess the safety and feasibility of adapting subtalar arthroereisis (SA) for type I osteogenesis imperfecta (OI) patients with symptomatic flatfoot. From December 2013 to January 2018, six type I OI patients (five girls and one boy, 12 feet) with symptomatic flexible flatfoot were treated with SA and the Vulpius procedure. All the patients were ambulatory and skeletally immature with failed conservative treatment and unsatisfactory life quality. Read More

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December 2020

New 3D Cone Beam CT Imaging Parameters to Assist the Dentist in Treating Patients with Osteogenesis Imperfecta.

Healthcare (Basel) 2020 Dec 10;8(4). Epub 2020 Dec 10.

Department of Oral and Maxillo-Facial Sciences, Sapienza University of Rome, 00161 Rome, Italy.

(1) Background: The aim of the work is to identify some imaging parameters in osteogenesis imperfecta to assist the dentist in the diagnosis, planning, and orthodontic treatment of Osteogenesis Imperfecta (OI) using 3D cone beam Computed Tomography (CBCT) and the Double Energy X-ray Absorptiometry (DEXA) technique. (2) Methods: 14 patients (9 males and 5 females; aged mean ± SD 15 ± 1.5) with a clinical-radiological diagnosis of OI were analyzed and divided into mild and moderate to severe forms. Read More

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December 2020

Comprehensive evaluation of bone health using DXA and pQCT in an Indian boy with osteogenesis imperfecta.

BMJ Case Rep 2020 Dec 13;13(12). Epub 2020 Dec 13.

Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India.

We present a 9-year-old male child having history of fractures on trivial trauma with a family history of the same. He was treated for osteogenesis imperfecta (OI; zolendronate, calcium and vitamin D) and showed clinical improvement. On evaluating his bone health using dual energy X-ray absorptiometry and peripheral quantitative CT, we found that the child had bone density within the reference range but a smaller bone mass for his height, low muscle mass and thin bones with a lower strength strain index in comparison with healthy children. Read More

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December 2020

Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5.

Bone Rep 2020 Dec 21;13:100735. Epub 2020 Nov 21.

Division of Orthogenetics, Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

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. Read More

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December 2020

Femur Fracture in a Premature Infant: An Unusual Association of Sickle Cell Disease with Osteogenesis Imperfecta.

Am J Case Rep 2020 Oct 20;21:e926821. Epub 2020 Oct 20.

Department of Pediatrics, NewYork Presbyterian-Brooklyn Methodist Hospital, Brooklyn, NY, USA.

BACKGROUND Bone health is influenced by multiple factors, including genetic disorders such as osteogenesis imperfecta (OI) and sickle cell disease (SCD). OI is a genetic disorder caused by mutations in genes that encode type 1 collagen. Type 1 collagen synthesizes bones, skin, and other connective tissues. Read More

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October 2020

Prenatal diagnosis of fetal skeletal dysplasia using 3-dimensional computed tomography: a prospective study.

BMC Musculoskelet Disord 2020 Oct 8;21(1):662. Epub 2020 Oct 8.

Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine, 645 Kaijii-cho, Kamigyo-ku, Kyoto, 602-8566, Japan.

Background: Fetal skeletal dysplasia (FSD) comprises a complex group of systemic bone and cartilage disorders. Many FSD phenotypes have indistinct definitions, making definitive prenatal diagnosis difficult. The condition is typically diagnosed using sonography; however, three-dimensional computed tomography (3D-CT) also aids in making a prenatal diagnosis. Read More

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October 2020

"Split Descemet's Membrane" diagnosed by anterior segment OCT.

J Fr Ophtalmol 2020 Dec 21;43(10):e383-e385. Epub 2020 Sep 21.

Wills Eye Hospital Cornea Service, Sidney-Kimmel Medical College at Thomas-Jefferson University, Philadelphia, PA, USA.

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December 2020

Bilateral Anterior Inferior Iliac Spine Avulsion Fractures in an Adolescent with Type I Osteogenesis Imperfecta: A Case Report.

JBJS Case Connect 2020 Jul-Sep;10(3):e2000271

1Department of Orthopaedic Surgery, University of Nebraska Medical Center, Children's Hospital and Medical Center, Omaha, Nebraska.

Case: A 13-year-old boy with known type I osteogenesis imperfecta (OI) presented with bilateral asynchronous anterior inferior iliac spine (AIIS) apophyseal avulsion fractures 6 weeks apart. Each happened while running. These were successfully treated nonoperatively, and he went on to heal. Read More

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Osteogenesis imperfecta Type XI: A rare cause of severe infantile cervical kyphosis.

Radiol Case Rep 2020 Nov 3;15(11):2157-2163. Epub 2020 Sep 3.

Royal Devon and Exeter NHS Foundation Trust, United Kingdom.

Osteogenesis imperfecta is a genetic disorder by bone fragility and decreased bone density. Ligamentous laxity is also a feature. We present a case report of a very young, nonmobile infant of 5 months who initially presented with a tibial fracture, and during a skeletal survey, was found to have other features consistent with osteogenesis imperfecta, including rib fractures of different ages, and multiple Wormian bones within the skull. Read More

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November 2020