31,057 results match your criteria Multiple Epiphyseal Dysplasia

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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[Analysis of genetic variants in a pedigree affected with hereditary multiple osteochondroma].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Jun;38(6):549-552

Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University, Fuzhou, Fujian 350007, China.

Objective: To explore the genetic basis for a pedigree affected with hereditary multiple osteochondroma (HMO).

Methods: Peripheral blood samples were collected from the proband and members of his pedigree with informed consent. Following extraction of genomic DNA, all coding exons and flanking intronic sequences (-10 bp) of the EXT1 and EXT2 genes were subjected to targeted capture and next generation sequencing (NGS). Read More

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[Evaluation of dietary diversity of rural residents in Arun Banner, a typical area of low selenium belt in China].

Wei Sheng Yan Jiu 2021 May;50(3):421-425

Key Laboratory of Land Surface Pattern and Simulation, Institute of Geographical Sciences and Natural Resources Research, Chinese Academy of Sciences, Beijing 100101, China College of Resources and Environment, University of Chinese Academy of Sciences, Beijing 100049, China.

Objective: To understand the dietary diversity and food sources of different groups in Arun Banner. Comparing and analyzing the changes of dietary diversity of local residents in different periods.

Methods: In October 2019, according to the differences of Kashin-Beck disease conditions and land use patterns of Arun Banner, Hulun Buir, 78 rural residents were randomly selected from four villages to investigate the frequency of daily food consumption by using self-made food frequency questionnaire. 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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-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.

Genes (Basel) 2021 May 11;12(5). Epub 2021 May 11.

Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.

Diastrophic dysplasia (DTD) is a rare osteochondrodysplasia characterized by short-limbed short stature and joint dysplasia. DTD is caused by mutations in and is particularly common in the Finnish population. However, the disease incidence in Finland and clinical features in affected individuals have not been recently explored. Read More

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A novel mutation in TNFRSF11A gene causes pediatric osteopetrosis: case report.

BMC Surg 2021 May 28;21(1):269. Epub 2021 May 28.

Department of Otolaryngology, Head & Neck Surgery, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 610091, China.

Background: Osteopetrosis is a rare inherited bone disorder affected individual by osteoclast disfunction and increasing bone density. Surgery was taken for histological examination of the specimen and evidence of malignancy was not found. Finally, X-ray and gene detection lead to the diagnosis. Read More

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Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.

BMC Pediatr 2021 05 22;21(1):248. Epub 2021 May 22.

Bone and mineral Clinic, Sainte-Justine Hospital Center, Department of Pediatrics, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, QC, Canada.

Introduction: Rickets is not an unusual diagnosis for pediatricians even currently in developed countries. Children typically present with leg bowing, enlargement of wrists, rachitic rosary (swelling of costochondral junctions) and/or waddling gait. But not every child with growth delay and enlarged metaphyses is diagnosed with rickets. Read More

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Imaging of Congenital Skeletal Disorders.

Semin Musculoskelet Radiol 2021 Feb 21;25(1):22-38. Epub 2021 May 21.

Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

Osteochondrodysplasias are the result of the expression of gene mutations. The phenotypes in osteochondrodysplasias evolve through life, with the possibility that previously unaffected bones may be involved at later stages of growth. Due to the variable time of onset, the diagnosis may be made prenatally, at birth, or later. Read More

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February 2021

Managing challenging pain and irritability in mutation-related infantile malignant osteopetrosis.

BMJ Case Rep 2021 May 19;14(5). Epub 2021 May 19.

Pediatrics, Al Adan Hospital, Al Ahmadi Health District, Kuwait.

Osteopetrosis describes a heterogeneous group of diseases characterised by increased bone density due to impaired osteoclast. The malignant infantile autosomal recessive (MIOP) form caused by mutations in is the most severe form of osteopetrosis. Children with this phenotype exhibit multisystemic complications, of which the neuropathic manifestations are the most severe. Read More

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Genetic Disorders of Bone or Osteodystrophies of Jaws-A Review.

Glob Med Genet 2021 Jun 15;8(2):41-50. Epub 2021 Mar 15.

Department of Oral Pathology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India.

Bone is a specialized form of connective tissue, which is mineralized and made up of approximately 28% type I collagen and 5% noncollagenous matrix proteins. The properties of bone are very remarkable, because it is a dynamic tissue, undergoing constant renewal in response to mechanical, nutritional, and hormonal influences. In 1978, "The International Nomenclature of Constitutional Diseases of Bone" divided bone disorders into two broad groups: osteochondrodysplasias and dysostoses. Read More

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Long-term follow-up of a child with Wolcott-Rallison syndrome.

BMJ Case Rep 2021 May 13;14(5). Epub 2021 May 13.

Paediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hopsital, Pune, Maharashtra, India

Wolcott-Rallison syndrome (WRS), the most common cause of permanent neonatal diabetes mellitus (DM) in consanguineous families, has a poor prognosis, with a mean survival of 5.8 years. Majority of children with WRS succumb to the disease in the first decade of life. Read More

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Clinical differences between central and peripheral chondrosarcomas.

Bone Joint J 2021 May;103-B(5):984-990

Department of Orthopaedics, Royal Orthopaedic Hospital, Birmingham, UK.

Aims: Chondrosarcoma is the second most common primary sarcoma of bone: conventional chondrosarcoma accounts for 85% of all cases. Conventional chondrosarcoma may be central or peripheral. Most studies group central and peripheral chondrosarcomas together, although there is growing evidence that their clinical behaviour and prognosis differ. 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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Implant-Prosthetic Restoration of a Patient with Osteogenesis Imperfecta: A Case Report.

Int J Environ Res Public Health 2021 04 15;18(8). Epub 2021 Apr 15.

Research Unit Rare Diseases with Orofacial Manifestations, Department of Cranio-Maxillofacial Surgery, Albert-Schweitzer-Campus 1, University Hospital Münster, Building W 30, D-48149 Münster, Germany.

Osteogenesis imperfecta describes a group of genetic disorders that result from a defect in collagen type I and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Osteogenesis imperfecta is mostly caused by mutations in the COL1A1 (17q21.33) and COL1A2 (7q21. Read More

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Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.

Int J Mol Sci 2021 Apr 21;22(9). Epub 2021 Apr 21.

Imagine Institute, Université de Paris, Clinical Genetics, INSERM UMR 1163, Necker Enfants Malades Hospital, 75015 Paris, France.

Bone development is a tightly regulated process. Several integrated signaling pathways including HH, PTHrP, WNT, NOTCH, TGF-β, BMP, FGF and the transcription factors SOX9, RUNX2 and OSX are essential for proper skeletal development. Misregulation of these signaling pathways can cause a large spectrum of congenital conditions categorized as skeletal dysplasia. Read More

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[The role of piezosurgery in the treatment of a rare case of superinfected cemento-osseous dysplasia caused by actinomyces: a case report].

Pan Afr Med J 2021 2;38:106. Epub 2021 Feb 2.

Service de Médecine et Chirurgie Buccales, Clinique Universitaire de Médecine et Chirurgie Dentaire, Monastir, Tunisie.

Cemento-osseous dysplasia is a benign fibro-osseous lesion affecting the alveolar bone. It is classified into three forms: periapical, focal or florid dysplasia. It is often asymptomatic and fortuitously discovered during a routine radiological examination. Read More

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A novel compound heterozygous variant in leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing.

J Int Med Res 2021 Apr;49(4):3000605211010644

Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Erqi District, 1 Jianshe East Road, Zhengzhou, P. R. China.

Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive inherited disorder that is caused by the mutation. The phenotype can vary from mild to severe on the basis of the patient's age at onset. Herein, we report the case of a 14-year-old Chinese boy who presented with short stature, focal segmental glomerulosclerosis (FSGS), and facial dysmorphism. Read More

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Juvenile Dysplasia Epiphysealis Hemimelica with Multiple Ankle Free Body.

Case Rep Orthop 2021 9;2021:5579684. Epub 2021 Apr 9.

Department of Orthopedic Surgery, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo Bunkyo-ku, Tokyo 113-8655, Japan.

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease, is a rare overgrowth of cartilage that commonly arises in the epiphyseal bone of children. We report a rare case of DEH originating from a talus accompanied by multiple intra-articular free bodies in a 7-year-old patient with ankle instability. After the primary surgery for free body removal and microfracture technique for the cartilage defects in the ankle joint, the free body recurred. Read More

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An iPS cell line SDUBMSi0011-A from a multiple epiphyseal dysplasia patient carrying c. 1076T > G mutation in the SMOC2 gene.

Stem Cell Res 2021 May 16;53:102353. Epub 2021 Apr 16.

Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics, School of Basic Medical Sciences, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, PR China. Electronic address:

SMOC2 gene encodes a modular extracellular protein and its mutation causes multiple epiphyseal dysplasia (MED) which characterized by short stature and osteoarthritis. Here, we generated an induced pluripotent stem cell line from a MED patient with c. 1076T > G transition mutation in SMOC2 gene. Read More

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Result of cementless total hip arthroplasty in a patient with osteopoikilosis, hip dysplasia and advanced osteoarthritis: a case report.

BMC Musculoskelet Disord 2021 Apr 22;22(1):376. Epub 2021 Apr 22.

Departments of Orthopedic Surgery, National Taiwan University Hospital, No.7, Chung Shan S. Rd, Taipei City, 10002, Taiwan.

Background: Osteopoikilosis (OPK) is a rare benign sclerosing bone dysplasia and is often incidentally found on plain radiography. OPK generally does not require treatment. Nevertheless, osteonecrosis or degenerative joint disease can occur in the setting of OPK, and little is known with regard to the longevity of arthroplasty prostheses implanted into OPK-bearing bones. Read More

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Outcomes of complex primary total knee arthroplasties performed with custom cutting guides.

Knee 2021 Apr 19;30:106-112. Epub 2021 Apr 19.

Department of Orthopaedic Surgery, Rush University Medical Center, Chicago, IL, USA. Electronic address:

Background: Total knee arthroplasty (TKA) is particularly challenging in patients with marked deformities or existing hardware due to the inability to use traditional instrumentation. One potential technique to mitigate this obstacle is the use of patient-specific cutting guides. The purpose of this study was to evaluate the use of custom cutting guides in complex primary TKAs. Read More

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A case report of Arnold Chiari type 1 malformation in acromesomelic dwarf infant.

Pan Afr Med J 2021 18;38:58. Epub 2021 Jan 18.

Siddhi Diagnostic and Research Centre, Nallasopara West, Maharashtra, India.

Arnold Chiari malformation is one of the commonest cause of congenital hydrocephalus. Cause of fetal development of cerebellar tonsils remains unknown and may be diagnosed at later in life. The association of Arnold Chiari malformation with acromesomelic dwarfism is not known. Read More

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Tracheobronchopathia osteochondroplastica: a cause of chronic cough and haemoptysis.

BMJ Case Rep 2021 Apr 12;14(4). Epub 2021 Apr 12.

Pathology and Microbiology, Aga Khan University, Karachi, Pakistan.

Tracheobronchopathia osteochondroplastica (TPO) is a rare disorder of the tracheopulmonary tree characterised by osseous and cartilaginous submucosal nodules projecting into the tracheal lumen, sparing the posterior tracheal membranous wall. Symptoms are non-specific and may include dry cough, hoarseness, dyspnoea, recurrent pneumonia and occasionally haemoptysis. A fibreoptic bronchoscopy showing multiple tracheal nodules followed by pathological biopsy is required to reach the final diagnosis. Read More

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Observed Frequency and Characteristics of Hearing Loss in Osteogenesis Imperfecta.

Rev Med Chil 2020 Dec;148(12):1781-1786

Department of Pediatric Endocrinology, UC Christus Health Center, Pontificia Universidad Católica de Chile, Chile.

Background: Osteogenesis imperfecta (OI) is a rare group of genetic disorders affecting connective tissue, with consequent bone fragility, frequent fractures and skeletal deformity. Depending on the type, patients can have blue sclera, dentinogenesis imperfecta, and hearing loss.

Aim: To determine the frequency, type and audiometric characteristics of hearing loss in a group of patients with OI. Read More

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December 2020

Achondroplasia from the viewpoint of orthodontics

Orv Hetil 2021 04 10;162(17):683-688. Epub 2021 Apr 10.

3 Heim Pál Országos Gyermekgyógyászati Intézet, Alvásdiagnosztikai és Terápiás Labor, Budapest.

Összefoglaló. Az achondroplasia kialakulásáért az FGFR3-gén mutációja tehető felelőssé, mely a porc növekedési lemezében található chondrocyták érésében okoz zavart. Az esetbemutatásban szereplő lánygyermeknél a születést követő első hónapban a klinikai, laboratóriumi és röntgenvizsgálatok alapján achondroplasia igazolódott. Read More

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[Frontometaphyseal dysplasia 1 caused by variant of FLNA gene in a case].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Apr;38(4):355-358

Shanghai Chindren's Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

Objective: To explore the clinical and genetic characteristics of a child with frontometaphyseal dysplasia 1 (FMD1) due to variant of FLNA gene.

Methods: Clinical phenotype of the patient was analyzed. Whole exome sequencing (WES) was carried out to detect pathogenic genetic variants. Read More

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Functional outcomes of an adult with osteogenesis imperfecta after rehabilitation post bilateral Girdlestone procedure.

BMJ Case Rep 2021 Apr 5;14(4). Epub 2021 Apr 5.

Orthopedics, Philippine General Hospital, Manila, Philippines.

This is a case of a 54-year-old woman managed as a case of osteogenesis imperfecta type 1 who sustained a left subtrochanteric fracture and eventual ankylosis of both hips after surgery and immobilisation. These injuries rendered her bedridden, maximally assisted in transitions and transfers, and unable to be positioned past 30° of backrest elevation. The patient underwent a bilateral Girdlestone procedure and had tailored progressive postoperative rehabilitation in both the inpatient and outpatient settings. Read More

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[Rare bone disorders and respective treatments].

Internist (Berl) 2021 May 29;62(5):486-495. Epub 2021 Mar 29.

Orthopädisches Zentrum für Muskuloskeletale Forschung, Universität Würzburg, Brettreichstr. 11, 97074, Würzburg, Deutschland.

Delineating the genetic background and the underlying pathophysiology of rare skeletal dysplasias enables a broader understanding of these disorders as well as novel perspectives regarding differential diagnosis and targeted development of therapeutic approaches. Hypophosphatasia (HPP) due to genetically determined Alkaline Phosphatase deficiency exemplifies this development. While an enzyme replacement therapy could be established for severe HPP with the prevailing bone manifestation, the clinical impact of not immediately bone-related manifestations just being successively understood. Read More

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Late survival in Ellis-van Creveld syndrome with common single atrium.

BMJ Case Rep 2021 Mar 24;14(3). Epub 2021 Mar 24.

Medicine department, Baroda Medical College, Vadodara, Gujarat, India.

Ellis-van Creveld (EVC) syndrome is a relatively rare chondroectodermal dysplasia considered mainly as a generalised disorder of the maturation of endochondral ossification. Congenital heart disease occurs in approximately half of the patients with EVC syndrome, 60% of which is a common atrium. Common atrium is a rare variety of interatrial communication characterised by absence or virtual absence of the atrial septum. Read More

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