29,145 results match your criteria Schwartz-Jampel Syndrome


Treatment of diaphyseal pathological fractures in children with monostotic fibrous dysplasia using cortical strut allografts and internal plating: A retrospective clinical study.

Medicine (Baltimore) 2019 Feb;98(5):e14318

Department of Orthopaedic Surgery, The Affiliated Southeast Hospital of Xiamen University, Zhangzhou.

Children with fibrous dysplasia (FD) chronically suffer from pain, pathological fractures, and limb deformities. The most effective methods for managing the associated pathological fractures remain controversial. The purpose of this study was to evaluate the clinical results of the treatment of diaphyseal pathological fractures in children with monostotic fibrous dysplasia (MFD) using cortical strut allografts and internal plating. Read More

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http://dx.doi.org/10.1097/MD.0000000000014318DOI Listing
February 2019
3 Reads

Identification of risk factors affecting bone formation in gradual ulnar lengthening in children with hereditary multiple exostoses: A retrospective study.

Medicine (Baltimore) 2019 Feb;98(5):e14280

Department of Pediatric Orthopedics.

The forearm deformity classified by Masada is a characteristic trait of patients with hereditary multiple exostoses (HME). Ulnar gradual lengthening, which was considered to be a safe and reliable procedure, was popular in treating these difficult deformities, however, delayed consolidation of the callus is uncommon but not rare in literature review. The purpose of this study was to try to identify the risk factors influencing bone healing in gradual ulnar lengthening in HME. Read More

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http://dx.doi.org/10.1097/MD.0000000000014280DOI Listing
February 2019

Slipped capital femoral epiphysis in an adult with congenital hypopituitarism: A case report.

Medicine (Baltimore) 2019 Jan;98(3):e13997

Department of Orthopedic Surgery, The First Hospital of Jilin University, Changchun, Jilin, China.

Rationale: Slipped capital femoral epiphysis (SCFE) is a common hip problem in adolescents, usually individuals between 8 and 15 years old. Because of the frequent finding of growth abnormalities in affected children, various endocrine disturbances have been reported as the cause of the disease. However, there are few case reports of older patients in previous literature. Read More

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http://dx.doi.org/10.1097/MD.0000000000013997DOI Listing
January 2019
6 Reads

Melorheostosis of The Leg: A Case Report.

J Radiol Case Rep 2018 Nov 30;12(11):12-17. Epub 2018 Nov 30.

Department of Radiology, King Fahad Hofuf Hospital, KSA.

Melorheostosis is a benign hyperostotic disease of the peripheral skeleton, rarely involving the axial skeleton. This disease is associated with ossified and non-ossified soft tissue masses surrounding the joints. We report the case of a 28-year-old male who presented to an orthopedic clinic with a chronic history of right leg pain. Read More

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http://dx.doi.org/10.3941/jrcr.v12i11.3539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312120PMC
November 2018

Hyperphosphataemic tumoral calcinosis.

Lancet 2019 01;393(10167):168

Department of Orthopaedics, All India Institute of Medical Sciences, Bhopal, India.

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http://dx.doi.org/10.1016/S0140-6736(18)33045-9DOI Listing
January 2019
1 Read
45.217 Impact Factor

X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report.

Medicine (Baltimore) 2019 Jan;98(1):e13850

Department of Ultrasound.

Rationale: X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving facial, skin, and skeletal dysplasia as a result of a mutation in emopamil binding protein (EBP). It usually presents with mild symptoms in female patients but is fatal in male patients.

Patient Concerns: A fetus was diagnosed with asymmetrical short limbs and a narrow and small thorax by prenatal ultrasound examination at 24+5 weeks gestation. Read More

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http://dx.doi.org/10.1097/MD.0000000000013850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344186PMC
January 2019
2 Reads
5.723 Impact Factor

The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study.

Medicine (Baltimore) 2019 Jan;98(1):e13780

Department of Medical Chemistry, Medical University of Vienna, Vienna, Austria.

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, short neck associated with variable degrees of coxa vara. Cervical cord compression is the most hazardous skeletal deformity in patients with SEDC which requires special attention and management.Ten patients with the clinical and the radiographic phenotypes of spondyloepiphyseal dysplasia congenita have been recognized and the genotype was compatible with single base substitutions, deletions or duplication of part of the COL2A1 gene (6 patients out of ten have been sequenced). Read More

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http://dx.doi.org/10.1097/MD.0000000000013780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344193PMC
January 2019
7 Reads
5.723 Impact Factor

Bone dysplasias in 1.6 million births in Argentina.

Eur J Med Genet 2018 Dec 17. Epub 2018 Dec 17.

National Network of Congenital Anomalies in Argentina (RENAC), National Center of Medical Genetics, National Administration of Laboratories and Health Institutes, National Ministry of Health, Argentina. Electronic address:

Currently accepted birth prevalence for osteochondrodysplasias (OCDs) is about 2 per 10,000 births. Our main goal is to estimate the prevalence of OCDs in Argentina and compare it with other surveillance systems. We examined 1,663,610 births among 160 hospitals of RENAC (Red Nacional de Anomalías Congénitas - National Network of Congenital Anomalies) between November 2009 and December 2016. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183059
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http://dx.doi.org/10.1016/j.ejmg.2018.12.008DOI Listing
December 2018
6 Reads
1.486 Impact Factor

Craniofacial anomalies associated with spondyloenchondrodysplasia: Two case reports.

Medicine (Baltimore) 2018 Dec;97(50):e13644

Clinic of Oral Medicine and Orofacial Pain, Institute of Oral Health Science, Ajou University School of Medicine, Suwon, Korea (ROK).

Rationale: Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia by biallelic mutations in ACP5 gene encoding tartrate-resistant acid phosphatase (TRAP). The extra-osseous phenotype of SPENCD is pleiotropic and involves neurological impairment and immune dysfunction. Dentofacial abnormalities and orofacial symptoms in SPENCD patients have been little discussed in the literature. Read More

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http://dx.doi.org/10.1097/MD.0000000000013644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320149PMC
December 2018
9 Reads

Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas.

Molecules 2018 Dec 11;23(12). Epub 2018 Dec 11.

Department of Medical Genetics and Rare Orthopaedic Diseases & CLIBI Laboratory-IRCCS, Istituto Ortopedico Rizzoli, V. di Barbiano 1/10, 40136 Bologna, Italy.

Multiple osteochondromas (MO) is a hereditary disorder associated with benign cartilaginous tumors, known to be characterized by absence or highly reduced amount of heparan sulfate (HS) in the extracellular matrix of growth plate cartilage, which alters proper signaling networks leading to improper bone growth. Although recent studies demonstrated accumulation of HS in the cytoplasm of MO chondrocytes, nothing is known on the structural alterations which prevent HS from undergoing its physiologic pathway. In this work, osteochondroma (OC), peripheral chondrosarcoma, and healthy cartilaginous human samples were processed following a procedure previously set up to structurally characterize and compare HS from pathologic and physiologic conditions, and to examine the phenotypic differences that arise in the presence of either exostosin 1 or 2 ( or ) mutations. Read More

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http://dx.doi.org/10.3390/molecules23123277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321082PMC
December 2018
5 Reads

Systemic Changes Affecting the Morphology of Calvarial Bone.

J Craniofac Surg 2019 Jan;30(1):e65-e75

Division of Plastic and Reconstructive Surgery, Department of Surgery, Mount Sinai Hospital.

Plastic surgeons are frequently consulted to evaluate concerns about a patient's skull. Imaging studies often reveal abnormalities in bone morphology, from increased porosity to sclerotic changes. While focal findings imply a benign or malignant neoplasm, the etiology of more diffuse findings can be more varied, making the correct diagnosis challenging. Read More

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http://Insights.ovid.com/crossref?an=00001665-900000000-9516
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http://dx.doi.org/10.1097/SCS.0000000000004991DOI Listing
January 2019
14 Reads

Chondroectodermal Syndrome.

J Ayub Med Coll Abbottabad 2018 Jul-Sep;30(3):473-475

National Orthopaedic Hospital, Bahawalpur, Pakistan.

Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B. Read More

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January 2019
2 Reads

A man with facial disfigurement.

Pan Afr Med J 2018;30:196. Epub 2018 Jul 5.

Excellence Center in Diabetes, Hormones and Metabolism, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

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http://dx.doi.org/10.11604/pamj.2018.30.196.16299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235515PMC
December 2018
2 Reads

Modular Proteoglycan Perlecan/: Mutations, Phenotypes, and Functions.

Genes (Basel) 2018 Nov 16;9(11). Epub 2018 Nov 16.

Department of Bioengineering, Rice University, Houston, TX 77005, USA.

Heparan sulfate proteoglycan 2 () is an essential, highly conserved gene whose expression influences many developmental processes including the formation of the heart and brain. The gene is widely expressed throughout the musculoskeletal system including cartilage, bone marrow and skeletal muscle. The gene product, perlecan is a multifunctional proteoglycan that preserves the integrity of extracellular matrices, patrols tissue borders, and controls various signaling pathways affecting cellular phenotype. Read More

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http://www.mdpi.com/2073-4425/9/11/556
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http://dx.doi.org/10.3390/genes9110556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6266596PMC
November 2018
8 Reads

Sclerosing bone dysplasias.

Best Pract Res Clin Endocrinol Metab 2018 10 18;32(5):707-723. Epub 2018 Jun 18.

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address:

The group of sclerosing bone dysplasia's is a clinically and genetically heterogeneous group of rare bone disorders which, according to the latest Nosology and classification of genetic skeletal disorders (2015), can be subdivided in three subgroups; the neonatal osteosclerotic dysplasias, the osteopetroses and related disorders and the other sclerosing bone disorders. Here, we give an overview of the most important radiographic and clinical symptoms, the underlying genetic defect and potential treatment options of the different sclerosing dysplasias included in these subgroups. Read More

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http://dx.doi.org/10.1016/j.beem.2018.06.003DOI Listing
October 2018

Long-term follow-up of a Schwartz-Jampel syndrome case.

Wiad Lek 2018 ;71(7):1429-1432

Faculty Of Medicine And Health Science, Jan Kochanowski University, Kielce, Poland.

Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterised by myotonia and bone dysplasia. It is inherited as an autosomal recessive trait and caused by mutations in the perlecan-encoding gene HSPG2. Its symptoms include muscular stiffness and hypertrophy. Read More

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January 2018
4 Reads

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.

J Biomed Sci 2018 Nov 17;25(1):82. Epub 2018 Nov 17.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad, Post code 45320, Pakistan.

Introduction: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease with skeletal fragility and variable extra-skeletal manifestations. To date several point mutations in 18 different genes causing different types of OI have been identified. Mutations in WNT1 compromise activity of the osteoblasts leading to disturbed bone mass accrual, fragility fractures and progressive skeletal abnormalities. Read More

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https://jbiomedsci.biomedcentral.com/articles/10.1186/s12929
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http://dx.doi.org/10.1186/s12929-018-0481-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240425PMC
November 2018
8 Reads

Mosaic Effects of Growth Hormone on Fibrous Dysplasia of Bone.

N Engl J Med 2018 11;379(20):1964-1965

National Institutes of Health, Bethesda, MD

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http://dx.doi.org/10.1056/NEJMc1808583DOI Listing
November 2018
25 Reads

The results of osteotomy at the base of femoral neck with osteoplasty in restoration of abductor function and strength in slipped capital femoral epiphysis.

Bone Joint J 2018 Nov;100-B(11):1524-1532

Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil; Department of Biomechanics, Medicine and Rehabilitation of the Locomotor System, Clinical Hospital of Ribeirão Preto, Ribeirão Preto, Brazil.

Aims: The aims of this study were to evaluate the abductor function in moderate and severe slipped capital femoral epiphysis (SCFE), comparing the results of a corrective osteotomy at the base of the femoral neck and osteoplasty with 1) in situ epiphysiodesis for mild SCFE, 2) contralateral unaffected hips, and 3) hips from healthy individuals.

Patients And Methods: A total of 24 patients (mean age 14.9 years (sd 1. Read More

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https://online.boneandjoint.org.uk/doi/10.1302/0301-620X.100
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http://dx.doi.org/10.1302/0301-620X.100B11.BJJ-2018-0273.R1DOI Listing
November 2018
15 Reads

Ligustrazine recovers thiram-induced tibial dyschondroplasia in chickens: Involvement of new molecules modulating integrin beta 3.

Ecotoxicol Environ Saf 2019 Jan 30;168:205-211. Epub 2018 Oct 30.

College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, PR China; College of Animals Husbandry and Veterinary Medicine, Tibet Agricultural and Animal Husbandry University, Linzhi, Tibet 860000, PR China. Electronic address:

Tetramethyl thiuram disulfide (thiram) is a dithiocarbamate, which is extensively used in agriculture as pesticide and fungicide for treating grains intended for seed purposes and also for storing food grains. One of the most evident and detrimental effect produced by thiram is tibial dyschondroplasia (TD) in many avian species, by feeding diets containing thiram, a growth plate cartilage disease. TD is characterized by the lack of blood vessels and impaired vascular invasion of the hypertrophic chondrocyte resulting in the massive cell death. Read More

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http://dx.doi.org/10.1016/j.ecoenv.2018.10.080DOI Listing
January 2019
2.762 Impact Factor

Reflection on the assessment and care of a child with osteogenesis imperfecta.

Nurs Child Young People 2018 Nov 22;30(6):26-29. Epub 2018 Oct 22.

Education, Queen's University Belfast, Northern Ireland.

Osteogenesis imperfecta (OI) is a rare genetic condition that causes bones to become brittle and fracture. This article draws on the reflective experiences of two second-year children's nursing students on placement. It includes a case study that explores the assessment and care of a child with OI. Read More

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https://journals.rcni.com/doi/10.7748/ncyp.2018.e1121
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http://dx.doi.org/10.7748/ncyp.2018.e1121DOI Listing
November 2018
8 Reads

Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.

Hum Genet 2018 Dec 27;137(11-12):905-909. Epub 2018 Oct 27.

Divisions of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada.

Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with microcephaly, developmental delay and intellectual disability, and eye involvement. Pathogenic variants in RNU4ATAC, an RNA of the minor spliceosome important for the excision of U12-dependent introns, have been recently associated with LWS. This gene had previously also been associated with microcephalic osteodysplastic primordial dwarfism (MOPD) and Roifman syndrome (RS), two distinct conditions which share with LWS some skeletal and neurological anomalies. Read More

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http://link.springer.com/10.1007/s00439-018-1950-8
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http://dx.doi.org/10.1007/s00439-018-1950-8DOI Listing
December 2018
9 Reads
4.824 Impact Factor

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.

Medicine (Baltimore) 2018 Oct;97(42):e12855

Department of Medical Genetics.

Hereditary multiple osteochondroma (HMO) is one of the most common genetic skeletal disorders. It is caused by mutations in either EXT1 or EXT2 resulting in abnormal skeletal growth and morphogenesis. However, the spectrum and frequency of EXT1 and EXT2 mutations in Chinese patients with HMO was not previously investigated. Read More

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http://Insights.ovid.com/crossref?an=00005792-201810190-0005
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http://dx.doi.org/10.1097/MD.0000000000012855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211902PMC
October 2018
8 Reads

SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics.

J Pediatr Endocrinol Metab 2018 Nov;31(11):1273-1278

Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Pediatric Endocrinology, Ankara, Turkey.

Background The short stature homeobox-containing (SHOX) gene strongly affects height. Therefore, a better understanding of SHOX haploinsufficiency could be advantageous to early diagnosis and treatment. We investigated the rate of SHOX haploinsufficiency in patients of short stature and documented their anthropometric measurements. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0038DOI Listing
November 2018
2 Reads

The role of Cutibacterium acnes in auto-inflammatory bone disorders.

Eur J Pediatr 2019 Jan 15;178(1):89-95. Epub 2018 Oct 15.

Department of Paediatrics, The University of Melbourne, Parkville, Australia.

Chronic nonbacterial osteomyelitis (CNO) and SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome are auto-inflammatory disorders manifesting as chronic inflammation of bones and joints, which in SAPHO is often accompanying by skin changes. The aetiology of these diseases is unknown, but includes genetic, infectious and immunological components. It has been proposed that Cutibacterium (formerly Propionibacterium) acnes plays a role in the pathogenesis. Read More

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http://link.springer.com/10.1007/s00431-018-3263-2
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http://dx.doi.org/10.1007/s00431-018-3263-2DOI Listing
January 2019
11 Reads

Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD).

BMJ Case Rep 2018 Oct 12;2018. Epub 2018 Oct 12.

Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Chondrodysplasia punctate (CDP) is a rare group of disorders with both genetic and non-genetic underlying aetiologies. The genetic causes associated with CDP include peroxisomal disorders, type two mucolipidosis, type 3 mucopolysaccharidosis, GM1 gangliosidosis and chromosomal disorders. Peroxisomal disorders include deficiency of dihydroxyacetone phosphate acyltransferase, encoded by GNPAT, deficiency of the peroxisomal enzyme alkyl-dihydroxyacetone phosphate synthase, encoded by AGPS and Zellweger syndrome. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2017-22337
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http://dx.doi.org/10.1136/bcr-2017-223373DOI Listing
October 2018
12 Reads

Diagnostic value of ultrasonography in synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome: A case report.

Medicine (Baltimore) 2018 Oct;97(41):e12725

Department of Rheumatology.

Rationale: Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare condition that affects the skin, bones, and joints. Diagnosis of SAPHO syndrome is established based on clinical manifestations and imaging features on radiography or magnetic resonance imaging.

Patient Concerns: We report a 44-year-old male with a 20-year history of pustulosis who presented with pain in the lower extremities. Read More

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http://dx.doi.org/10.1097/MD.0000000000012725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203473PMC
October 2018
3 Reads

Osteosarcoma in an Adolescent with Kniest Dysplasia: A Case Report.

JBJS Case Connect 2018 Oct-Dec;8(4):e78

Musculoskeletal Research Center, Department of Orthopaedic Surgery, Children's Hospital Colorado, Aurora, Colorado.

Case: A 19-year-old adolescent with Kniest dysplasia was incidentally found to have osteosarcoma of the proximal aspect of the humerus after having a chest radiograph for evaluation of an upper respiratory infection. He underwent chemotherapy and resection of the tumor, and there was no evidence of metastasis at the 16-month follow-up.

Conclusion: Patients with osteochondrodysplasias often have multiple orthopaedic symptoms. Read More

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http://dx.doi.org/10.2106/JBJS.CC.18.00047DOI Listing
October 2018
1 Read

A Best Practice Initiative to Optimize Transfer of Young Adults With Osteogenesis Imperfecta From Child to Adult Healthcare Services.

Clin Nurse Spec 2018 Nov/Dec;32(6):323-335

Author Affiliations: Nursing Student (Ms Carrier), Research Trainee (Mss Siedlikowski and Michalovic), Professor of Pediatrics (Dr Rauch), and Assistant Professor (Dr Tsimicalis), Faculty of Medicine, McGill University; and Shriners Nursing Research Coordinator (Ms Bilodeau), Research Assistant (Mss Chougui, Carrier and Siedlikowski), Director of Nursing and Patient Care Services (Ms Thorstad), Clinical Nurse (Mss Plourde and Michalovic), Physiotherapist (Mss Mercier and Thevasagayam), Occupational Therapist (Ms Lafrance), Social Worker (Ms Wong), Pediatrician (Dr Rauch), and Nurse Scientist (Dr Tsimicalis), Shriners Hospitals for Children-Canada, Montreal, Quebec, Canada.

Purpose: The aims of this study were (1) to review the current body of knowledge on the transition experiences of adolescents with osteogenesis imperfecta (OI) and appraise the evidence available on transfer summary tools, (2) to develop guidelines for the successful transition of adolescents with OI from child to adult healthcare services, and (3) to create a transfer tool tailored to adolescents with OI.

Design And Methods: This knowledge synthesis study was overseen by an interprofessional expert task force at Shriners Hospitals for Children-Canada and entailed (1) review of the literature, (2) development of guidelines, and (3) creation of a tool.

Results: The tool was created from evidence compiled from case reports, clinical examples, and nonexperimental studies. Read More

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http://Insights.ovid.com/crossref?an=00002800-201811000-0000
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http://dx.doi.org/10.1097/NUR.0000000000000407DOI Listing
October 2018
1 Read
0.900 Impact Factor

Achondroplasia: Orocraniofacial Features and Orthodontic-Surgical Management Guidelines Proposal.

J Craniofac Surg 2018 Nov;29(8):2186-2191

Department of Oral and Maxillofacial Surgery, University of Lille, CHU Lille.

In this study, the authors aimed to describe orocraniofacial features and to suggest orthodontic-surgical managements in achondroplasia, based on a literature review. The authors focused on skeletal and dentoalveolar malocclusion in order to highlight the place of orthognathic surgery, based on our experience of 3 patients. Maxillary hypoplasia in achondroplasia typically results in an Angle class III malocclusion with an anterior open bite. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004819DOI Listing
November 2018
20 Reads

Case 3: A 10-year-old Boy with Saber Shins.

Pediatr Rev 2018 Oct;39(10):523-526

Division of Genetic and Metabolic Disorders, Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit, MI.

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http://dx.doi.org/10.1542/pir.2017-0068DOI Listing
October 2018
1 Read

Collagen I Defect Corneal Profiles in Osteogenesis Imperfecta.

Cornea 2018 Dec;37(12):1561-1565

Medical Genetics Service, Clinical Hospital of Porto Alegre, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.

Purpose: The goal of this study was to evaluate corneal profiles of patients with osteogenesis imperfecta (OI) due to a collagen I gene mutation.

Methods: This was a cross-sectional comparative study. There were 84 eyes from 42 patients with OI types I, III, and IV who were recruited from the OI Clinic at the Clinical Hospital of Porto Alegre, Brazil. Read More

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http://Insights.ovid.com/crossref?an=00003226-900000000-9672
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http://dx.doi.org/10.1097/ICO.0000000000001764DOI Listing
December 2018
8 Reads

[Thoracic Outlet Syndrome Caused by Fibrous Dysplasia of the First Rib].

Acta Chir Orthop Traumatol Cech 2018 ;85(4):291-293

I. chirurgická klinika Lékařské fakulty Masarykovy Univerzity a Fakultní nemocnice U sv. Anny v Brně.

The purpose of the case report is to present the case of a 42-year-old woman with thoracic outlet syndrome caused by fibrous dysplasia of the first rib treated by surgical therapy through cervicothoracic approach by Grunenwald with complete vascular and partial brachial plexus preparation. Key words:thoracic outlet syndrome, fibrous dysplasia, cervicothoracic approach. Read More

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January 2019
2 Reads

Cyclic bisphosphonate therapy reduces pain and improves physical functioning in children with osteogenesis imperfecta.

BMC Musculoskelet Disord 2018 Sep 24;19(1):344. Epub 2018 Sep 24.

Vanderbilt University Medical Center, Nashville, TN, USA.

Background: Children with osteogenesis imperfecta (OI) experience pain and impaired physical functioning. The longitudinal effect of cyclic bisphosphonate treatment on these symptoms has not been described. We serially evaluated pain and functioning in pediatric patients with OI treated with intravenous bisphosphonate therapy. Read More

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http://dx.doi.org/10.1186/s12891-018-2252-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6154399PMC
September 2018

Idiopathic osteosclerosis in the maxillomandibular area.

Radiol Med 2019 Jan 22;124(1):27-33. Epub 2018 Sep 22.

Laboratory of Immunology, División de Estudios de Posgrado e Investigación, Facultad de Odontología, Universidad Nacional Autónoma de México, 04510, Mexico, D.F., Mexico.

Objectives: To test a more complete set of morphometric radiographic parameters to evaluate the idiopathic osteosclerosis (IO) lesions located in the maxillomandibular area and to know their features during routine radiographic evaluation.

Materials And Methods: Radiographs from patients attending the oral diagnosis clinic of our institution were reviewed. Evaluated parameters were gender and age of the patients, size, side, homogeneity, morphology, radiodensity, mineralization, borders, relation to roots, affected tooth or teeth and location of the analyzed lesions. Read More

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http://dx.doi.org/10.1007/s11547-018-0944-xDOI Listing
January 2019

Wolcott-Rallison Syndrome With Different Clinical Presentations and Genetic Patterns in 2 Infants.

Health Care Manag (Frederick) 2018 Oct/Dec;37(4):354-357

Author Affiliations: Subspecialty in Pediatric Endocrine and Metabolism (Dr Davoodi) Department of Pediatric Endocrinology, Namazi Hospital (Dr Karamizadeh), Shooshtari Hospital (Dr Ghobadi), and English Department (Dr Shokrpour), Shiraz University of Medical Sciences, Shiraz, Iran.

Wolcott-Rallison syndrome is a rare disease presenting with insulin-dependent diabetes mellitus (DM) before 6 months old, skeletal dysplasia after 6 months old, and liver failure. Other manifestations are renal failure, microcephaly, epilepsy, central hypothyroidism, neutropenia, and dental and dermal problems. The cases were 2 patients from 2 different states of Iran (Khoozestan and Fars) who had developed DM before 6 months old. Read More

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http://dx.doi.org/10.1097/HCM.0000000000000238DOI Listing
December 2018
4 Reads

Palovarotene reduces heterotopic ossification in juvenile FOP mice but exhibits pronounced skeletal toxicity.

Elife 2018 09 18;7. Epub 2018 Sep 18.

Department of Molecular and Cell Biology, University of Connecticut Stem Cell Institute, University of Connecticut, Storrs, United States.

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by debilitating heterotopic ossification (HO). The retinoic acid receptor gamma agonist, palovarotene, and antibody-mediated activin A blockade have entered human clinical trials, but how these therapeutic modalities affect the behavior of pathogenic fibro/adipogenic progenitors (FAPs) is unclear. Using live-animal luminescence imaging, we show that transplanted pathogenic FAPs undergo rapid initial expansion, with peak number strongly correlating with HO severity. Read More

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http://dx.doi.org/10.7554/eLife.40814DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143342PMC
September 2018
3 Reads

Metaphyeal and Diaphyseal Dysplasia of the Third Cervical Vertebra Secondary to Physeal Necrosis in a Quarter Horse Foal.

J Comp Pathol 2018 Aug 23;163:38-41. Epub 2018 Aug 23.

The Ohio State University College of Veterinary Medicine, Columbus, Ohio, USA. Electronic address:

Ischaemia-induced physeal injury has not been described previously in the horse. A 1-month-old Quarter horse foal was submitted for necropsy examination due to an acute onset of ataxia followed by a 4-week history of progressive decline. Focal narrowing of the spinal canal due to ventral compression by the rotation of the cranial aspect of the third cervical vertebra (C3) was observed. Read More

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http://dx.doi.org/10.1016/j.jcpa.2018.07.001DOI Listing
August 2018
3 Reads

Slipped Capital Femoral Epiphysis: A Review for Pediatricians.

Pediatr Ann 2018 Sep;47(9):e377-e380

Slipped capital femoral epiphysis (SCFE) is one of the most common hip pathologies that occurs during adolescence, and its incidence has been increasing over the past decades. For this reason, pediatricians should be aware of this entity to ensure an early diagnosis and intervene in a timely manner. The typical patient with SCFE is an adolescent who is obese presenting with hip pain, but it can also occur in children who are not obese; therefore, SCFE should be part of the differential diagnosis in any skeletally immature patient presenting with hip or knee pain. Read More

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http://dx.doi.org/10.3928/19382359-20180730-01DOI Listing
September 2018
13 Reads

Sternal-Sparing Aortic Valve Replacement in a Patient with Osteogenesis Imperfecta: A Case Report.

J Heart Valve Dis 2017 11;26(6):744-746

St. John of God Hospital, Subiaco, WA, Australia.

The case described here is the first reported case of successful isolated aortic valve replacement (AVR) via a right anterior thoracotomy (RAT) in a patient with osteogenesis imperfecta (OI). The most common reported complication in patients with OI undergoing AVR or other cardiac surgery is bleeding and sternal complications. By using a RAT approach, it was possible to replace the aortic valve without major bleeding, transfusion, or sternal complications. Read More

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November 2017
7 Reads

Perlecan/HSPG2: Signaling role of domain IV in chondrocyte clustering with implications for Schwartz-Jampel Syndrome.

J Cell Biochem 2018 Sep 11. Epub 2018 Sep 11.

Department of BioSciences, Rice University, Houston, Texas.

Perlecan/heparan sulfate proteoglycan 2 (HSPG2), a large HSPG, is indispensable for the development of musculoskeletal tissues, where it is deposited within the pericellular matrix (PCM) surrounding chondrocytes and disappears nearly completely at the chondro-osseous junction (COJ) of developing long bones. Destruction of perlecan at the COJ converts an avascular cartilage compartment into one that permits blood vessel infiltration and osteogenesis. Mutations in perlecan are associated with chondrodysplasia with widespread musculoskeletal and joint defects. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jcb.27521
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http://dx.doi.org/10.1002/jcb.27521DOI Listing
September 2018
12 Reads

Multiple bilateral mixed-density lesions of the mandible and Restricted jaw opening.

Authors:
Galal Omami

Gen Dent 2018 Sep-Oct;66(5):77-78

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February 2019

Bilateral Central Giant Cell Granuloma of the mandibular angle in three females from the same family.

Head Face Med 2018 Sep 4;14(1):14. Epub 2018 Sep 4.

Maxillo-Facial Surgery Unit, Department of Life, Health and Environmental Sciences, University of L'Aquila, Via Lorenzo Natali 1: Località Coppito, 67100, L'Aquila, AQ, Italy.

In literature there are few reports about multiple CGCG. But this is the first report of bilateral CGCG of the mandibular angles in three females from the same family.This report describes three cases of females from the same family - a mother and two young daughters - with bilateral CGCG in their jaw angles. Read More

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https://head-face-med.biomedcentral.com/articles/10.1186/s13
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http://dx.doi.org/10.1186/s13005-018-0171-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122611PMC
September 2018
4 Reads

Cystic Degeneration of Craniofacial Fibrous Dysplasia.

World Neurosurg 2018 Dec 31;120:159-162. Epub 2018 Aug 31.

Department of Radiology and Nuclear Medicine, Erasmus Medical Center, Erasmus Medical Center and Sophia Children's Hospital, Rotterdam, The Netherlands.

Background: Fibrous dysplasia (FD) is most often a slowly progressive benign disease in which the normal bone structure is replaced by fibrous and osteoid tissue.

Case Description: A 16-year-old adolescent, known with FD in the sphenoid bone, suffered an acute decreased visual acuity with papilledema on the left eye. The radiologic images were best compatible with cystic degeneration of the known FD with optic nerve compression in the optic canal. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.08.175DOI Listing
December 2018
9 Reads

Orthodontic management of a patient with cherubism: A case report.

Am J Orthod Dentofacial Orthop 2018 Sep;154(3):433-441

Division of Orthodontics and Dentofacial Orthopedics, Department of Dentistry, Bronx Care Health System, Bronx, NY.

Introduction: The aim of this case report was to present the successful orthodontic treatment of an adolescent girl with cherubism.

Methods: The patient began treatment after puberty. Necessary extractions were performed, and she had full-arch treatment of the maxillary and mandibular anterior teeth. Read More

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http://dx.doi.org/10.1016/j.ajodo.2017.05.038DOI Listing
September 2018
1 Read

Proximal Tibial Osteochondroma Leading to Chronic Compartment Syndrome.

J Coll Physicians Surg Pak 2018 Sep;28(9):S190-S191

Department of Orthopaedics, Pt. B. D. Sharma PGIMS, Rohtak, Haryana, India.

Osteochondroma is the most common benign tumour of bone seen in 3% of the general population. Complications such as neurological compromise, skeletal defects, vascular lesions, and compartment syndrome occur in about 4% of osteochondromas. We bring forth the case of a 16-year male who presented with the complaints of swelling in calf region associated with symptoms of claudication and paraesthesias in leg after exertion and absence of any such complaints at rest. Read More

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http://dx.doi.org/10.29271/jcpsp.2018.09.S190DOI Listing
September 2018
3 Reads

Pediatric Hip Disorders: Slipped Capital Femoral Epiphysis and Legg-Calvé-Perthes Disease.

Pediatr Rev 2018 Sep;39(9):454-463

Montefiore Medical Center and the Children's Hospital at Montefiore, Bronx, NY.

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http://dx.doi.org/10.1542/pir.2017-0197DOI Listing
September 2018
4 Reads

Hereditary multiple exostoses of the ribs as an uncommon cause of pneumothorax: A case report.

Medicine (Baltimore) 2018 Aug;97(35):e11894

Department of Respiratory Diseases, University Hospital, Reims, France.

Rationale: Hereditary multiple exostoses (HME) is a genetic musculoskeletal condition causing multiple exostoses. Rib location of exostosis can be complicated by thoracic injuries.

Patient Concerns And Diagnoses: We report a case of pneumothorax in a 32-year-old man with a partial left-sided pneumothorax caused by an exostosis of the fourth and fifth ribs. Read More

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http://dx.doi.org/10.1097/MD.0000000000011894DOI Listing
August 2018
9 Reads

Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas.

Pediatr Dermatol 2018 Nov 31;35(6):e353-e356. Epub 2018 Aug 31.

Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany.

Terminal osseous dysplasia is a rare, X-linked syndrome, presumptively embryonic lethal in males, which has recently been described with highly characteristic skin findings. The presence of intracytoplasmic inclusion bodies in fibroblasts has been considered an exclusive finding of infantile digital fibromatosis. This is the first report documenting digital fibromas with intracytoplasmic inclusion bodies in a classic case of terminal osseous dysplasia. Read More

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http://doi.wiley.com/10.1111/pde.13656
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http://dx.doi.org/10.1111/pde.13656DOI Listing
November 2018
5 Reads

Identification of apoptosis-related genes in erythrocytes of broiler chickens and their response to thiram-induced tibial dyschondroplasia and recombinant glutathione-S-transferase A3 protein.

Res Vet Sci 2018 Oct 23;120:11-16. Epub 2018 Aug 23.

College of Animal Science and Veterinary Medicine, Shanxi Agricultural University, Taigu 030801, China. Electronic address:

Thiram, a carbamate pesticide, is known to induce tibial dyschondroplasia (TD) in broiler chickens. This study used a thiram-induced TD model to explore whether apoptosis-related genes were expressed in erythrocytes of broiler chickens and the impacts of thiram-induced TD and the recombinant GSTA3 protein in regulating these genes expression. In this study, mRNA and protein expression of six types of apoptosis-related genes (Bcl-2, Bax, Murine double minute MDM2, Bcl-2-associated athanogene BAG-1, BAG-3, STAT3) were identified in erythrocytes of broiler chickens by real-time PCR and immunohistochemistry, and we also found that thiram-induced TD induced the decreased expression of these antiapoptotic genes in the initial stage of TD and promoted their expression in TD recovery, which suggested that the expression of these apoptosis-related genes in erythrocytes is highly related to the development of TD. Read More

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http://dx.doi.org/10.1016/j.rvsc.2018.08.001DOI Listing
October 2018
1 Read