32,078 results match your criteria Schwartz-Jampel Syndrome


Dissecting the phenotypic variability of osteogenesis imperfecta.

Dis Model Mech 2022 May 16;15(5). Epub 2022 May 16.

Department of Molecular Medicine, Biochemistry Unit, University of Pavia, 27100 Pavia, Italy.

Osteogenesis imperfecta (OI) is a heterogeneous family of collagen type I-related diseases characterized by bone fragility. OI is most commonly caused by single-nucleotide substitutions that replace glycine residues or exon splicing defects in the COL1A1 and COL1A2 genes that encode the α1(I) and α2(I) collagen chains. Mutant collagen is partially retained intracellularly, impairing cell homeostasis. Read More

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Hydrochemical characteristics of surface waters and their relationships to the Kashin-Beck Disease in Longzi County, Tibet.

Sci Rep 2022 May 12;12(1):7819. Epub 2022 May 12.

Key Laboratory of Ecosystem Network Observation and Modelling, Institute of Geographic Sciences and Natural Resources Research, Chinese Academy of Sciences, Beijing, 100101, China.

Although previous studies have been reported between the Kashin-Beck Disease (KBD) epidemic and the hydrochemical characteristics of surface waters, the etiology of the disease remains unclear. In the present study, we comprehensively investigated the relationship between the KBD and the hydrochemical characteristics of surface waters in Longzi County. Results show that, the pH (mean = 7. Read More

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Osteosclerotic metaphyseal dysplasia, dysosteosclerosis or osteomyelitis? Paediatric case presentation with associated mandibular swelling and a review of the literature.

BMJ Case Rep 2022 May 12;15(5). Epub 2022 May 12.

Oral and Maxillofacial Surgery, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.

Osteosclerotic metaphyseal dysplasia (OMD) is an extremely rare form of osteopetrosis, which bears significant clinical similarities to dysosteosclerosis (DSS). We aim to present a rare case of OMD with mandibular swelling and osteomyelitis infection including diagnosis journey as well as management in 7-year-old patient. Literature review completed for OMD cases. Read More

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Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study.

Front Endocrinol (Lausanne) 2022 25;13:869604. Epub 2022 Apr 25.

Department of Internal Medicine, Section Endocrinology, Amsterdam Rare Bone Disease/Amsterdam Bone Center, Amsterdam University Medical Center, location VUmc, Amsterdam, Netherlands.

Osteogenesis Imperfecta (OI) is a complex disease caused by genetic alterations in production of collagen type I, and collagen-related proteins. Bone fragility is the most common patient issue, but extraskeletal complications also present an adverse factor in the quality of life and prognosis of patients with OI. However, still little is known about the morbidity and mortality of these patients. Read More

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Double-layered patella management in total knee arthroplasty for secondary osteoarthritis: A case report.

J ISAKOS 2022 Apr 5;7(2):99-105. Epub 2022 Feb 5.

Department of Orthopaedic Surgery, Université de Montréal, Hôpital Maisonneuve-Rosemont, 5415 boulevard de l'Assomption, Montréal, H1T 2M4, QC, Canada. Electronic address:

Double-layered patella (DLP) is an osseous disorder associated with multiple epiphyseal dysplasia (MED). A thorough investigation should be conducted prior to surgery to assess the role of each layer and their vascularization in order to establish the best surgical strategy. We present the case of a woman in her late 50s with MED, bilateral DLP, and secondary osteoarthritis treated by a left total knee arthroplasty (TKA). Read More

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Osteochondromatosis: clinical variability and factors related to quality of life in children and adults.

Arch Argent Pediatr 2022 Jun;120(3):180-186

Servicio de Crecimiento y Desarrollo, Hospital de Pediatría S.A.M.I.C. "Prof. Dr. Juan P. Garrahan", Ciudad Autónoma de Buenos Aires, Argentina.

Introduction: Hereditary osteochondromatosis is an uncommon, autosomal, dominant condition characterized by the presence of multiple bone growths.

Objective: To analyze factors associated with health-related quality of life (HRQoL) among children > 2 years and adults receiving follow-up at a tertiary care children's hospital in Argentina.

Population And Methods: Cross-sectional study of a follow-up cohort. Read More

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[Clinical features and mutations of children with achondroplasia].

Zhongguo Dang Dai Er Ke Za Zhi 2022 Apr;24(4):405-410

Department of Pediatrics, First Affiliated Hospital of Air Force Military Medical University, Xi'an 710032, China.

Objectives: To study the clinical features and fibroblast growth factor receptor 3 () gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases.

Methods: A retrospective analysis was performed on the clinical data and gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021.

Results: Of the 17 children with ACH, common clinical manifestations included disproportionate short stature (100%, 17/17), macrocephaly (100%, 17/17), trident hand (82%, 14/17), and genu varum (88%, 15/17). Read More

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Key measurement concepts and appropriate clinical outcome assessments in pediatric achondroplasia clinical trials.

Orphanet J Rare Dis 2022 05 7;17(1):182. Epub 2022 May 7.

Pfizer Inc, New York, USA.

Background: This study aimed to identify fit-for-purpose clinical outcome assessments (COAs) to evaluate physical function, as well as social and emotional well-being in clinical trials enrolling a pediatric population with achondroplasia. Qualitative interviews lasting up to 90 min were conducted in the US with children/adolescents with achondroplasia and/or their caregivers. Interviews utilized concept elicitation methodology to explore experiences and priorities for treatment outcomes. Read More

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Lower limb deformities and limb length discrepancies in hereditary multiple exostoses.

Acta Orthop Belg 2022 Mar;88(1):198-205

There is a high rate of lower limb deformity and limb length discrepancy in patients with hereditary multiple exostoses (HME). The aim of this study was to evaluate the type and frequency of lower limbs axial deviation and limb length discrepancy and the type of exostoses being risk factors for theses deformities. We retrospectively reviewed standing full-length radiograph of 32 HME patients (64 limbs) followed in our institution between October 2009 and December 2020. Read More

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The Indirect Victims of COVID-19: Perception of Non-COVID-19 Patients about the Effect of Closure of the Medical Outpatient Services on their Health.

West Afr J Med 2022 Apr;39(4):355-361

Department of Medicine, University of Ilorin, Ilorin, Kwara State, Nigeria.

Background: In order to reduce COVID-19 transmission and protect healthcare workers, the outpatient departments (OPDs) in many hospitals worldwide were closed down in the early days of the pandemic. Patients being managed for chronic medical illnesses who subsequently suffered reduced access to healthcare have been described as "the patients left behind".

Aim: The study aimed at assessing the impact of the closure of the Medical OPD in University of Ilorin Teaching Hospital (UITH) on the health and perceived well-being of patients with chronic medical illnesses. Read More

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[Early manifestation and progressive multicomponent current of McCune-Albright-Braitsev syndrome in a girl 9 years old: a clinical case and literature review].

Probl Endokrinol (Mosk) 2021 Dec 12;68(2):72-89. Epub 2021 Dec 12.

Surgut State University.

McCune-Albright-Braitsev Syndrome (MAB syndrome) is a very rare multisystem disease manifested by fibrous bone dysplasia, coffee-and-milk colored spots, hyperfunction of various endocrine glands and a number of pathologies of other body systems. We present a description of a clinical case of a severe progressive course of MAB Syndrome in a nine-year-old girl. With this diagnosis, the girl is observation of the girl began when she was 2. Read More

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December 2021

Gait in children with achondroplasia - a cross-sectional study on joint kinematics and kinetics.

BMC Musculoskelet Disord 2022 Apr 28;23(1):397. Epub 2022 Apr 28.

Department of Women's and Children's Health, Karolinska Institutet, Motoriklab, Q2:07, Karolinska University Hospital, 171 76, Stockholm, Sweden.

Background: Children with achondroplasia have extreme short stature due to short limbs, as well as several other clinical features that may affect their gait. The purpose of this cross-sectional study was to provide a detailed description of gait in children with achondroplasia compared to age-matched controls.

Methods: Between the years 2007 and 2010, 16 children with achondroplasia [mean age 9. Read More

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Evaluation of a Slipped Capital Femoral Epiphysis Virtual Reality Surgical Simulation for the Orthopaedic Trainee.

J Am Acad Orthop Surg Glob Res Rev 2022 04 1;6(4). Epub 2022 Apr 1.

From the Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD.

Objective: The purpose of this study was to compare outcomes between orthopaedic trainees using various preoperative training platforms (physical simulation [PS], virtual reality [VR], and reading/videos) in a slipped capital femoral epiphysis model.

Methods: Participants were randomly assigned to one of the three groups: (1) reading/video control group (n = 7), (2) VR group (n = 7), or (3) PS group (n = 7). Participants in the VR group completed a VR slipped capital femoral epiphysis module while participants in the PS group practiced the placement of a screw in the physical module before evaluation of percutaneous screw placement in the PS model. Read More

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Pycnodysostosis; A Rare Disease Case Report.

J Ayub Med Coll Abbottabad 2022 Jan-Mar;34(1):216-219

Frontier Medical College, Abbottabad, Pakistan.

Pycnodysostosis is a rare disease with very few reported cased all over the world. It was first described in 1963 by Maroteaux and Lamy. It is also known as Toulouse-Lautrec syndrome, after a French artist, Henri de Toulouse Lautrec. Read More

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Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.

Orphanet J Rare Dis 2022 04 23;17(1):174. Epub 2022 Apr 23.

Department of Human Genetics, CHU of Liège, Avenue de l'Hôpital 1, Sart-Tilman, 4000, Liège, Belgium.

Background: Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of clinical recommendations in such rare diseases. We report a new case and provide the first systematic review of all previous published cases. Read More

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Transcriptome-based biomarker gene screening and evaluation of the extracellular fatty acid-binding protein (Ex-FABP) on immune and angiogenesis-related genes in chicken erythrocytes of tibial dyschondroplasia.

BMC Genomics 2022 Apr 22;23(1):323. Epub 2022 Apr 22.

College of Veterinary Medicine, Shanxi Agricultural University, Jinzhong, 030801, China.

Background: Tibial dyschondroplasia (TD) is a bone disorder in which dead chondrocytes accumulate as a result of apoptosis and non-vascularization in the tibial bone of broiler chickens. The pathogenicity of TD is under extensive research but is yet not fully understood. Several studies have linked it to apoptosis and non-vascularization in the tibial growth plate (GP). Read More

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Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature.

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

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Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature.

Cells 2022 Apr 8;11(8). Epub 2022 Apr 8.

Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.

Natriuretic peptide receptor 2 (NPR2) plays a key role in cartilage and bone morphogenesis. The gene mutations result in acromesomelic dysplasia, Maroteaux type (AMDM), short stature with nonspecific skeletal abnormalities (SNSK), and epiphyseal chondrodysplasia, Miura type (ECDM). However, the pathogenic mechanism remains unclear. Read More

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Roifman syndrome: a description of further immunological and radiological features.

BMJ Case Rep 2022 Apr 21;15(4). Epub 2022 Apr 21.

Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland.

Roifman syndrome is a rare autosomal recessive inherited syndromic immunodeficiency. We wish to add to the available literature by reporting two brothers with clinical, radiological and immunological features of Roifman syndrome, confirmed on whole exome sequencing. We report an excellent response to subcutaneous immunoglobulin therapy in both brothers, reducing infection burden and hospital admissions. Read More

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[Clinical and genetic analysis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome due to a novel frameshift variant of DYM gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 Apr;39(4):370-373

Department of Assisted Reproduction, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.

Objective: To explore the genetic basis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome.

Methods: Whole exome sequencing and Sanger sequencing were carried out to detect potential pathogenic variants associated with the syndrome. The function of candidate variant was verified by Western blotting. Read More

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Perlecan, A Multi-Functional, Cell-Instructive, Matrix-Stabilizing Proteoglycan With Roles in Tissue Development Has Relevance to Connective Tissue Repair and Regeneration.

Front Cell Dev Biol 2022 1;10:856261. Epub 2022 Apr 1.

Graduate School of Biomedical Engineering, University of New South Wales, Sydney, NSW, Australia.

This review highlights the multifunctional properties of perlecan (HSPG2) and its potential roles in repair biology. Perlecan is ubiquitous, occurring in vascular, cartilaginous, adipose, lymphoreticular, bone and bone marrow stroma and in neural tissues. Perlecan has roles in angiogenesis, tissue development and extracellular matrix stabilization in mature weight bearing and tensional tissues. Read More

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Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys.

BMC Med Genomics 2022 04 14;15(1):82. Epub 2022 Apr 14.

Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

Background: Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is an autosomal recessive condition encompassing a heterogeneous group of disorders characterized by symmetrical growth retardation leading to dwarfism, microcephaly, and a range of multiple medical complications including neurovascular diseases. Biallelic pathogenic variants in the pericentrin gene (PCNT) have been implicated in its pathogenesis.

Case Presentation: We performed whole-exome sequencing to ascertain the diagnosis of a 2 year and 6 months old boy who presented with severe failure to thrive, microcephaly, and facial gestalt suggestive of MOPD Type II which included features such as retrognathia, small ears, prominent nasal root with a large nose, microdontia, sparse scalp hair, bilateral fifth finger clinodactyly. Read More

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Effects of zoledronic acid therapy in fibrous dysplasia of bone: a single-center experience.

Arch Endocrinol Metab 2022 Apr 11;66(2):247-255. Epub 2022 Apr 11.

Ambulatório de Osteometabolismo, Rede SARAH de Hospitais de Reabilitação, Brasília, DF, Brasil.

Objective: Fibrous dysplasia (FD) is a rare bone disorder that can involve any part of the skeleton, leading to bone pain, deformities, and fractures. Treatment with intravenous bisphosphonates has been used with variable results. Therefore, we aimed to evaluate the effects of zoledronic acid (ZA) therapy in patients with monostotic or polyostotic FD. Read More

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Growth surveillance indices and Kashin-Beck Disease in children.

J Med Life 2022 Feb;15(2):292-297

Independent researcher, Baoji, Shaanxi, China.

Selenium, manganese, and calcium are necessary elements for maintaining normal growth and skeleton formation. Kashin-Beck disease mostly occurs in children, resulting in deformities, dwarfism, and disabilities. Selenium deficiency was considered a risk factor in China, while manganese was reportedly involved in it in Russia. Read More

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February 2022

Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.

Front Immunol 2022 28;13:825367. Epub 2022 Mar 28.

Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.

Objective: This study aimed to assess the efficacy and safety of 2 Janus kinase (JAK) inhibitors (jakinibs) tofacitinib and ruxolitinib in the treatment of type I interferonopathies patients including STING-associated vasculopathy with onset in infancy (SAVI), Aicardi-Goutières syndrome (AGS), and spondyloenchondrodysplasia with immune dysregulation (SPENCD).

Methods: A total of 6 patients were considered in this study: 2 patients with SAVI, 1 patient with AGS1, 1 patient with AGS7, and 2 patients with SPENCD. Clinical manifestations, laboratory investigations, radiology examinations, treatment, and outcomes were collected between November 2017 and November 2021 in Peking Union Medical College Hospital. Read More

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Dental phenotype in an adolescent with osteogenesis imperfecta type XII.

BMJ Case Rep 2022 Apr 13;15(4). Epub 2022 Apr 13.

Department of Dentistry and Maxillofacial Surgery, Hong Kong Children's Hospital, Hong Kong, Hong Kong.

Mutation in SP7, encoding the osteoblast-specific transcription factor SP7 (also known as osterix), has been described to cause osteogenesis imperfecta (OI) type XII. However, the exact dental phenotype has not been well described. We report the detailed dental manifestation of a boy known to have OI type XII, presented with impacted dentition, necessitating combined oral and maxillofacial surgical and orthodontic treatment. Read More

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Planned Preterm Delivery and Treatment of Severe Infantile FEVR With Osteoporosis-Pseudoglioma Syndrome.

Ophthalmic Surg Lasers Imaging Retina 2022 Apr 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

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Impact of the Heparan Sulfate Proteoglycan Perlecan on Human Disease and Health.

Am J Physiol Cell Physiol 2022 Apr 13. Epub 2022 Apr 13.

Research Institute for Diseases of OldAge Juntendo University Graduate School of Medicine, Tokyo, Japan.

Perlecan, a basement membrane-type heparan sulfate proteoglycan, is an important molecule in the functional diversity of organisms because of the diversity of its glycan chains and the multifunctionality of its core proteins. Human diseases associated with perlecan have been identified using gene-deficient mice. Two human diseases related to perlecan have been reported. Read More

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Freeman-Sheldon Syndrome with Stiff Knee Gait - A Case Report.

J Orthop Case Rep 2021 Nov;11(11):64-68

Department of Orthopedics, Faculty of Medicine - Sri Lalithambigai Medical College and Hospital, Dr MGR Educational and Research Institute, Chennai, Tamil Nadu, India.

Introduction: Freeman-Sheldon syndrome (FSS), also known as the distal arthrogryposis (DA) type 2A, is a rare congenital anomaly. We report a unique case of the DA type 2A with mixed clinical features and the unusual presentation of bilateral congenital dislocation of the knee but had unassisted stiff knee gait.

Case Report: A 5-year-old female child presented to the clinic with the complaint of inability to bend both knees since birth. Read More

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November 2021

Spondyloepiphyseal dysplasia congenita: Use of complementary 3D reconstruction imaging for preoperative planning.

Clin Imaging 2022 Jun 30;86:94-97. Epub 2022 Mar 30.

Dept. of Orthopedics, Phoenix Children's Hospital, 1919 E. Thomas Rd., Phoenix, AZ 85016, United States of America. Electronic address:

We present a case of spondyloepiphyseal dysplasia congenita (SEDC), a rare autosomal dominant genetic disorder that results in short stature and skeletal anomalies. Children with SEDC have disproportionate short-trunked short stature, platyspondyly, coxa vara, and epiphyseal involvement. Those with coxa vara can develop osteoarthritis of the hip early and a valgus hip osteotomy is recommended to preserve hip function and delay progression to osteoarthritis. Read More

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