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Bone 2022 May 30;162:116451. Epub 2022 May 30.

Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, USA. Electronic address:

Introduction: Osteogenesis imperfecta (OI) is a heterogenous group of heritable connective tissue disorders characterized by high bone fragility due to low bone mass and impaired bone material properties. Atypical type VI OI is an extremely rare and severe form of bone dysplasia resulting from a loss-of-function mutation (p.S40L) in IFITM5/BRIL,the causative gene of OI type V and decreased osteoblast secretion of pigment epithelium-derived factor (PEDF), as in OI type VI. Read More

J Int Med Res 2022 May;50(5):3000605221097369

Department of Orthopaedic Surgery, University Hospital in Hradec Kralove, Charles University, Faculty of Medicine in Hradec Kralove, Hradec Kralove, Czech Republic.

The majority of adults with mild osteogenesis imperfecta report significant functional impairment due to musculoskeletal concerns. Knee osteoarthritis is common in these patients. Although total knee arthroplasty has become a highly efficient surgical technique for osteoarthritis, this procedure remains uncommon in patients with osteogenesis imperfecta. Read More

Genes (Basel) 2022 03 25;13(4). Epub 2022 Mar 25.

Department of Human Pathology in Adulthood and Childhood, University of Messina, Gaetano Martino University Hospital, 98125 Messina, Italy.

Osteogenesis imperfecta/Ehlers-Danlos (OI/EDS) overlap syndrome is a recently described disorder of connective tissue, characterized by mutation of (17q21.33) or (7q21.3) genes, that are involved in α-1 and α-2 chains of type 1 collagen synthesis. Read More

Ophthalmic Surg Lasers Imaging Retina 2022 04 1;53(4):228-232. Epub 2022 Apr 1.

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinopathy resulting from mutations in the signaling pathway leading to abnormalities in fetal retinal vasculogenesis, angiogenesis, and retinal vascular maintenance. Severe FEVR may result in congenital retinal detachment resembling Norrie disease. The authors report the first case of planned preterm delivery and treatment of a patient with severe FEVR from biallelic mutations whose siblings had congenital tractional retinal detachments with light perception vision outcomes after conventional care. Read More

Bone 2022 07 31;160:116400. Epub 2022 Mar 31.

Shriners Hospital for Children - Canada, Montreal, QC, Canada. Electronic address:

Mutations in SP7 (encoding osterix) have been identified as a rare cause of recessive osteogenesis imperfecta ('OI type XII') and in one case of dominant juvenile Paget's disease. We present the first description of young adult siblings with OI due to a unique heterozygous mutation in SP7. The phenotype was characterized by fragility fractures (primarily of the long bone diaphyses), poor healing, scoliosis, and dental malocclusion. Read More

World J Pediatr 2022 Jul 29;18(7):515-519. Epub 2022 Mar 29.

Department of Clinical Genetics, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Shenyang, 110004, China.

Eur Spine J 2022 Jun 23;31(6):1566-1572. Epub 2022 Mar 23.

Tel Aviv Souraski Medical Center, Weizmann 6, Tel Aviv, 6436212, Israel.

Purpose: The purpose of this study is to present the outcomes all patients with osteogenesis imperfecta (OI) who underwent cementless posterior spinal fusion for the treatment of severe spine deformity in our institution.

Methods: All patients with OI who underwent surgical correction of their spine deformity in our institution between 2003 and 2020 were enrolled. The collected data included demographics, operative and follow-up findings, medical history, bisphosphonate therapy, HGT protocol, pre- and post-HGT and postoperative scoliosis and kyphosis curve measurements, hospitalization length, complications, and revision surgeries. Read More

Childs Nerv Syst 2022 05 16;38(5):991-995. Epub 2022 Mar 16.

Department of Neurosurgery, Faculty of Medicine, Geneva University Hospitals and University of Geneva, Geneva, Switzerland.

Osteogenesis imperfecta (OI) is a rare bone disease due to an abnormal synthesis of 1-type collagen. OI is frequently associated with basilar impression (BI), defined by the elevation of the clivus and floor of the posterior fossa with subsequent migration of the upper cervical spine and the odontoid peg into the base of the skull. Bone intrinsic fragility leading to fractures and deformity, brainstem compression and impaired CSF circulation at cranio-vertebral junction (CVJ) makes the management of these conditions particularly challenging. Read More

J Bone Miner Res 2022 05 27;37(5):908-924. Epub 2022 Mar 27.

Research Centre, Shriners Hospital for Children-Canada, Montreal, Canada.

Repositioning error in longitudinal high-resolution peripheral-quantitative computed tomography (HR-pQCT) imaging can lead to different bone volumes being assessed over time. To identify the same bone volumes at each time point, image registration is used. While cross-sectional area image registration corrects axial misalignment, 3D registration additionally corrects rotations. Read More

Bone 2022 06 5;159:116378. Epub 2022 Mar 5.

Child Health Research Centre, Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia; Department of Endocrinology and Diabetes, Queensland Children's Hospital, Brisbane, QLD, Australia.

Introduction: Osteogenesis imperfecta (OI) or brittle bone disease is a genetic disorder that results in bone fragility. Bisphosphonates such as zoledronic acid (ZA) are used clinically to increase bone mass and reduce fracture risk. Human growth hormone (hGH) has been used to promote long bone growth and forestall short stature in children with OI. Read More

Asian J Surg 2022 06 25;45(6):1361-1362. Epub 2022 Feb 25.

Department of Ultrasound, Union Hospital, Tongji Medical College, Huazhong University of Sciences and Technology, Wuhan, 430022, China; Hubei Provincial Key Laboratory of Molecular Imaging, Wuhan, 430022, China. Electronic address:

J Pediatr Orthop 2022 May-Jun 01;42(5):e507-e514

Division of Orthopaedic Surgery.

Background: Osteogenesis imperfecta (OI) is a heritable disease characterized by bone fragility and other extra skeletal manifestations. Most patients with OI have mutations in the COL1A1 or COL1A2 genes. However, a significant minority of patients with clinical OI have non-COL1A1/2 mutations, which have become easier to detect with the use of genetic panels. Read More

J Pediatr Orthop 2022 May-Jun 01;42(5):e515-e519

Department of Orthopaedic Surgery, University of North Carolina, Chapel Hill, NC.

Background: Isolated fractures of the olecranon process of the ulna in pediatric patients with open physes are classically considered pathognomonic for osteogenesis imperfecta (OI). The purpose of this study was to distinguish the clinical manifestations of isolated olecranon fractures in patients with and without OI to help practitioners assess when further evaluation for OI may be necessary.

Methods: All patients younger than 18 years old who were treated for an isolated olecranon fracture at a pediatric tertiary care center between 2009 and 2021 were identified. Read More

J Bone Miner Res 2022 05 9;37(5):938-953. Epub 2022 Mar 9.

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

Osteogenesis imperfecta (OI) is a collagen-related bone disorder characterized by fragile osteopenic bone and muscle weakness. We have previously shown that the soluble activin receptor type IIB decoy (sActRIIB) molecule increases muscle mass and improves bone strength in the mild to moderate G610C mouse model of OI. The sActRIIB molecule binds multiple transforming growth factor-β (TGF-β) ligands, including myostatin and activin A. Read More

J Vet Diagn Invest 2022 May 15;34(3):558-563. Epub 2022 Feb 15.

North Lab, Hondori, Sapporo, Hokkaido, Japan (Kagawa).

We examined the clinical features and pathology, and identified the causative mutation, of osteogenesis imperfecta in a 2-mo-old kitten with growth retardation and abnormal gait. Blood and radiographic examinations were performed on presentation. Radiographs revealed decreased opacity of numerous bones. Read More

Bone Rep 2022 Jun 21;16:101161. Epub 2021 Dec 21.

Department of Biomedical Engineering, Indiana University Purdue University of Indianapolis, Indianapolis, IN, United States.

Water constitutes roughly a quarter of the cortical bone by volume yet can greatly influence mechanical properties and tissue quality. There is a growing appreciation for how water can dynamically change due to age, disease, and treatment. A key emerging area related to bone mechanical and tissue properties lies in differentiating the role of water in its four different compartments, including free/pore water, water loosely bound at the collagen/mineral interfaces, water tightly bound within collagen triple helices, and structural water within the mineral. Read More

J Pediatr Orthop 2022 Feb;42(2):e224-e228

Division of Orthopaedic Surgery, McGill University Health Centre, Shriners Hospital for Children, Montreal, Quebec, Canada.

Background: The aim of this study is to describe the technique of retrograde application of Fassier-Duval (FD) rod for the humerus in patients with osteogenesis imperfecta (OI). This technique was developed to overcome the downsides of the previously used techniques of humerus rodding.

Methods: The study was done at a tertiary care pediatric orthopaedic hospital from April 2014 to August 2021. Read More

J Am Acad Orthop Surg Glob Res Rev 2022 01 4;6(1). Epub 2022 Jan 4.

From the University of Nebraska Medical Center, Omaha, NE (Dr. Stockwell and Dr. Wallace) and the University of Nebraska Medical Center, Children's Hospital and Medical Center Omaha (Dr. Wallace).

Osteogenesis imperfecta (OI) is a rare genetic condition resulting in decreased bone density and bony deformity and a wide variety of extraskeletal manifestations. Acetabular protrusio and constipation are both commonly associated with OI. We present two cases of severe pelvic deformity resulting in mechanical colonic outlet obstruction, which were successfully treated with a colostomy. Read More

J Pediatr Endocrinol Metab 2022 Mar 23;35(3):355-362. Epub 2021 Dec 23.

Research Centre, King Faisal Specialist Hospital & Research Centre (Gen. Org.), Jeddah, Saudi Arabia.

Objectives: Osteogenesis imperfecta (OI) is a heterogeneous group of inherited connective tissue disorders, characterised by skeletal fragility. Patients with OI may also exhibit extra-skeletal features like blue or grey scleral colour, fragile skin, easy bruising, joint laxity, short stature, deafness, cardiac valve abnormalities and abnormal pulmonary function. The objective of this study is to describe genetic mutations, prevalence of hearing issues, cardiac complications and impaired pulmonary function in children with OI. Read More

Bone 2022 02 8;155:116282. Epub 2021 Dec 8.

ARTORG Centre for Biomedical Engineering Research, University of Bern, Bern, Switzerland.

Osteogenesis Imperfecta (OI) is an inherited form of bone fragility characterised by impaired synthesis of type I collagen, altered trabecular bone architecture and reduced bone mass. High resolution peripheral computed tomography (HR-pQCT) is a powerful method to investigate bone morphology at peripheral sites including the weight-bearing distal tibia. The resulting 3D reconstructions can be used as a basis of micro-finite element (FE) or homogenized finite element (hFE) models for bone strength estimation. Read More

Acta Med Acad 2021 Aug;50(2):277-291

University of Utah, Department of Radiology and Imaging Sciences.

The aim of this paper is to describe the varying clinical and imaging manifestations of Osteogenesis Imperfecta (OI) in the fetus, the child, and the adult. OI is a genetic disorder with mutation of Type 1 and non-type 1 collagen genes that results in disruption of multiple collagen based organ systems, most notably bones, often leading to "brittle bones". Additional features such as blue sclera, dentinogenesis imperfecta, joint and ligamentous hyperlaxity, hearing loss and cardiac defects may be present. Read More

J Bone Miner Res 2022 03 22;37(3):515-530. Epub 2021 Dec 22.

Beijing Institute of Dental Research, Beijing Stomatological Hospital, Capital Medical University, Beijing, China.

Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant genetic disease characterized by the osteosclerosis of tubular bones and the formation of cemento-osseous lesions in mandibles. Although genetic mutations for GDD have been identified in the ANO5/TMEM16E gene, the cellular and molecular mechanisms behind the pathogenesis of GDD remain unclear. Here, we generated the first knock-in mouse model for GDD with the expression of human mutation p. Read More

JBJS Case Connect 2021 11 22;11(4). Epub 2021 Nov 22.

Shriners Hospitals for Children-Portland, Portland, Oregon.

Case: We report an 18-year-old patient with a clinical phenotype consistent with severe osteogenesis imperfecta (OI) with frequent fractures, short stature, shortening and bowing of extremities, and unusual radiographic features of severe fibrous dysplasia, including lytic lesions and a "ground-glass" appearance. Genetic testing for the patient was notable for a c.119C>T (p. Read More

Childs Nerv Syst 2022 02 22;38(2):361-377. Epub 2021 Nov 22.

Department of Neurosurgery, Rush University Medical Center, Chicago, IL, USA.

Objective: Cervical kyphosis is rare in the pediatric population. It may be syndromic or acquired secondary to laminectomy, neoplasia, or trauma. Regardless, this should be avoided to prevent progressive spinal deformity and neurological deficit. Read More

J Pediatr Orthop 2022 Jan;42(1):47-52

Orthopaedics Surgery Department.

Background: Osteosynthesis of leg fractures and deformities in children with osteogenesis imperfecta should align the skeleton and overcome its fragility during growth with a telescopic effect. A high rate of mechanical complications is associated with various surgical techniques described in the literature.

Purpose: The objective of this work was to assess the long-term clinical and radiologic outcomes of tibial sliding elastic nailing technique. Read More

Bone 2022 01 22;154:116235. Epub 2021 Oct 22.

Department of Oncology and Metabolism, University of Sheffield, Damer Street Building, Sheffield, S10 2TH, UK; Department of Radiology, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, S10 2TH, UK; Highly Specialised Service for Severe, Complex and Atypical Osteogenesis Imperfecta (NHS England) - Birmingham Women's and Children's Hospital, UK; Bristol Royal Hospital for Children, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, UK; Sheffield Children's Hospital NHS Foundation Trust, UK.

Objectives: In the context of a lack of national consensus on the benefits of skull base imaging in children with osteogenesis imperfecta (OI), this study aims to analyse and correlate the clinical symptoms and radiological images of children with severe OI.

Methods: A retrospective case notes and image analysis was carried out on children with complex OI between 2012 and 2018 at a specialist tertiary centre. Data were collected on patient demographic factors, clinical data, imaging findings (presence of Wormian bones, platybasia, basilar impression (McGregor's technique) and basilar invagination (McRae's technique)), and clinical features at the time of imaging. Read More

Calcif Tissue Int 2022 03 22;110(3):303-312. Epub 2021 Oct 22.

Oral Care Center for Inherited Diseases, University of Brasília, Brasília, DF, Brazil.

Patients with Osteogenesis Imperfecta (OI) present extra-skeletal manifestations, including important orodental and craniofacial features as dentinogenesis imperfecta, dental agenesis, failure of maxilla growth and hypotonia of masticatory muscles. These features may compromise vital functions speech and mastication. Studies have demonstrated that cyclic pamidronate infusion, the standard therapy for patients with moderate to severe OI, influences the histomorphometric pattern of different body bones. Read More

Am J Hum Genet 2021 10;108(10):2006-2016

Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.

Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families. In addition, 25/47 affected individuals (53%) presented with microcephaly, developmental delay/intellectual disability, cerebral palsy, and/or epilepsy. Read More

J Clin Endocrinol Metab 2022 01;107(1):67-76

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

Context: Mutations in type I collagen or collagen-related proteins cause osteogenesis imperfecta (OI). Energy expenditure and body composition in OI could reflect reduced mobility or intrinsic defects in osteoblast differentiation increasing adipocyte development.

Objective: This study compares adiposity and resting energy expenditure (REE) in OI and healthy controls (HC), for OI genotype- and Type-associated differences. Read More

J Child Orthop 2021 Aug;15(4):388-394

Ortopediatri Istanbul, Academy of Pediatric Orthopaedics, Istanbul, Turkey.

Purpose: Telescopic intramedullary nailing (TN) has become the main choice of treatment in children with osteogenesis imperfecta (OI). The classical parapatellar tibial nailing technique poses difficulties in maintaining reduction, insertion of the nail and fluoroscopic imaging. Also, deformities of the proximal tibia in relatively small children with OI can be problematic for tibial nailing. Read More