30,863 results match your criteria Schwartz-Jampel Syndrome

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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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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[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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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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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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A Novel Pathogenic Mutation in Schwartz-Jampel Syndrome.

Front Neurol 2021 9;12:632336. Epub 2021 Mar 9.

Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.

Schwartz-Jampel syndrome is a rare autosomal recessive disease caused by mutation in the heparan sulfate proteoglycan 2 () gene. Its cardinal symptoms are skeletal dysplasia and neuromuscular hyperactivity. Herein, we identified a new pathogenic mutation site (NM_005529. 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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Coexistence of Sjögren syndrome in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: A retrospective observational study.

Medicine (Baltimore) 2021 Mar;100(12):e23940

Department of Traditional Chinese Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

Abstract: To identify the prevalence and clinical characteristics of Sjögren syndrome (SS) in a Chinese single-center cohort of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome.Patients diagnosed with SS were screened out from a cohort of 164 cases of SAHPO syndrome. Information regarding the patients' gender, age at onset, clinical features, laboratory tests, bone scintigraphy, and treatment was reviewed. Read More

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Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.

Nat Genet 2021 04 17;53(4):467-476. Epub 2021 Mar 17.

Department of Biology, Stanford University, Stanford, CA, USA.

Gene regulatory divergence is thought to play a central role in determining human-specific traits. However, our ability to link divergent regulation to divergent phenotypes is limited. Here, we utilized human-chimpanzee hybrid induced pluripotent stem cells to study gene expression separating these species. Read More

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A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.

Medicine (Baltimore) 2021 Mar;100(11):e25169

Department of Endocrinology.

Rationale: X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. Several pathogenic variants in TRAPPC2 have been reported, but missense variants are rare.

Patient Concerns: A 13-year, 8-month-old Chinese Han boy presenting with short stature for the past 7 years. Read More

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[The experience in surgical treatment of hearing loss in Van der Hoeve patients].

Vestn Otorinolaringol 2021 ;86(1):6-10

Saint Petersburg Research Institute for Ear, Throte, Nose and Speech, Saint Petersburg, Russia.

Despite the rare incidence of Van der Hoeve syndrome in the population, the problem of treating patients with this type of disease is important for modern science and practical medicine. One of the most difficult tasks in treatment is to improve the quality of hearing. The world scientific community lacks a unified coordinated approach to the methods of auditory rehabilitation of patients with Van der Hoeve syndrome. Read More

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An orthodontic perspective on Larsen syndrome.

BMC Oral Health 2021 03 10;21(1):111. Epub 2021 Mar 10.

Section of Orthodontics, Department of Oral Growth and Development, Fukuoka Dental College, 2-15-1 Tamura, Sawara-ku, Fukuoka, 8140193, Japan.

Background: Larsen syndrome (LS) is a rare disorder of osteochondrodysplasia. In addition to large-joint dislocations, craniofacial anomalies are typical characteristics. In this report, we performed orthodontic analyses, including skeletal and occlusal evaluations, to examine whether the craniofacial skeletal morphology leads to the craniofacial anomalies in LS. Read More

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SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2021 Jan;46(1):108-112

Department of Pediatrics, Third Xiangya Hospital, Central South University, Changsha 410013, China.

A case of SNX10 gene mutation in a patient with infantile malignant osteopetrosis (IMO) was admitted to Department of Pediatrics, Third Xiangya Hospital, Central South University. The patient had the symptom of anemia, hepatosplenomegaly and growth retardation. The X-ray examination suggested extensive increase of bone density throughout the body, which was clinically diagnosed as IMO. Read More

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January 2021

Knockdown of hspg2 is associated with abnormal mandibular joint formation and neural crest cell dysfunction in zebrafish.

BMC Dev Biol 2021 Mar 8;21(1). Epub 2021 Mar 8.

Department of Biological Sciences, University of Texas El Paso, El Paso, TX, 79968, USA.

Background: Heparan sulfate proteoglycan 2 (HSPG2) encodes for perlecan, a large proteoglycan that plays an important role in cartilage formation, cell adhesion, and basement membrane stability. Mutations in HSPG2 have been associated with Schwartz-Jampel Syndrome (SJS) and Dyssegmental Dysplasia Silverman-Handmaker Type (DDSH), two disorders characterized by skeletal abnormalities. These data indicate a function for HSPG2 in cartilage development/maintenance. Read More

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Further understanding on osteopetrotic femoral fractures: a case report and literature review.

BMC Surg 2021 Mar 6;21(1):117. Epub 2021 Mar 6.

Department of Orthopaedics, First Affiliated Hospital of Shantou University Medical College, Shantou, 515041, People's Republic of China.

Background: Osteopetrosis is a genetic disease characterized by defects in osteoclast formation and function. There were a few cases of subtrochanteric femur fractures treated with dynamic hip screw (DHS) in patients with osteopetrosis, but unfortunately the healing outcome was rather poor.

Case Presentation: We present our experience for treating a patient with intermediate autosomal recessive osteopetrosis (IRO) suffering from subtrochanteric femur fracture. Read More

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Hip Injuries in the Adolescent Athlete.

Clin Sports Med 2021 Apr 5;40(2):385-398. Epub 2021 Feb 5.

Department of Orthopaedics, San Antonio Military Medical Center, 3851 Roger Brooke Drive, Fort Sam Houston, TX 78234, USA. Electronic address:

This article provides concise and up-to-date information on the most common hip pathologies that affect adolescent athletes. We cover the evaluation and treatment of avulsion injuries, stress fractures, slipped capital femoral epiphysis (SCFE), femoroacetabular impingement, developmental dysplasia of the hip, Legg-Calve-Perthes disease, and coxa saltans focusing on minimizing advanced imaging and using conservative therapy when applicable. Although this is not an all-encompassing list of disorders, it is key to understand these hip pathologies because these injuries occur commonly and can also have detrimental complications if not diagnosed and addressed early, especially SCFE and femoral neck stress fractures. Read More

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Pax5 Negatively Regulates Osteoclastogenesis through Downregulation of Blimp1.

Int J Mol Sci 2021 Feb 20;22(4). Epub 2021 Feb 20.

Department of Microbiology and Molecular Biology, College of Bioscience and Biotechnology, Chungnam National University, Daejeon 34134, Korea.

Paired box protein 5 (Pax5) is a crucial transcription factor responsible for B-cell lineage specification and commitment. In this study, we identified a negative role of Pax5 in osteoclastogenesis. The expression of Pax5 was time-dependently downregulated by receptor activator of nuclear factor kappa B (RANK) ligand (RANKL) stimulation in osteoclastogenesis. Read More

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February 2021

Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology.

Int J Mol Sci 2021 Feb 28;22(5). Epub 2021 Feb 28.

Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.

Signal transduction at the neuromuscular junction (NMJ) is affected in many human diseases, including congenital myasthenic syndromes (CMS), myasthenia gravis, Lambert-Eaton myasthenic syndrome, Isaacs' syndrome, Schwartz-Jampel syndrome, Fukuyama-type congenital muscular dystrophy, amyotrophic lateral sclerosis, and sarcopenia. The NMJ is a prototypic cholinergic synapse between the motor neuron and the skeletal muscle. Synaptogenesis of the NMJ has been extensively studied, which has also been extrapolated to further understand synapse formation in the central nervous system. Read More

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February 2021

Increased Bone Resorption during Lactation in Pycnodysostosis.

Int J Mol Sci 2021 Feb 11;22(4). Epub 2021 Feb 11.

Center for Bone Quality Department of Internal Medicine division of Endocrinology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

Pycnodysostosis, a rare autosomal recessive skeletal dysplasia, is caused by a deficiency of cathepsin K. Patients have impaired bone resorption in the presence of normal or increased numbers of multinucleated, but dysfunctional, osteoclasts. Cathepsin K degrades collagen type I and generates N-telopeptide (NTX) and the C-telopeptide (CTX) that can be quantified. Read More

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February 2021

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.

Int J Mol Sci 2021 Feb 24;22(5). Epub 2021 Feb 24.

Fundació de Recerca de l'Institut de Microcirurgia Ocular, 08035 Barcelona, Spain.

This study aims to genetically characterize a two-year-old patient suffering from multiple systemic abnormalities, including skeletal, nervous and developmental involvements and Leber congenital amaurosis (LCA). Genetic screening by next-generation sequencing identified two heterozygous pathogenic variants in nicotinamide mononucleotide adenylyltransferase 1 () as the molecular cause of the disease: c.439+5G>T and c. Read More

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February 2021

Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns.

Nucleic Acids Res 2021 04;49(6):3524-3545

Physiology and Neurobiology Department, University of Connecticut, 75 N. Eagleville Road, Storrs, CT 06269, USA.

Vertebrate genomes contain major (>99.5%) and minor (<0.5%) introns that are spliced by the major and minor spliceosomes, respectively. Read More

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Monomelic Maffucci syndrome.

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

Trauma and Orthopaedics, Southport and Ormskirk Hospital NHS Trust, Southport, UK.

Maffucci syndrome is a rare congenital, non-hereditary condition characterised by presence of multiple enchondromas and haemangiomas. Enchondromatous lesions affecting epiphysial growth plates can lead to angular deformities and leg-length discrepancy in the lower limb. We describe a 12-year-old girl with monomelic Maffucci syndrome affecting her left lower limb. Read More

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Cluster of differentiation 147 (CD147) expression is linked with thiram induced chondrocyte's apoptosis via Bcl-2/Bax/Caspase-3 signalling in tibial growth plate under chlorogenic acid repercussion.

Ecotoxicol Environ Saf 2021 Apr 27;213:112059. Epub 2021 Feb 27.

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:

Tibial dyschondroplasia (TD) is a metabolic disease of young poultry that affects bone andcartilage's growth. It mostly occurs in broilers due to thiram toxicity in the feed. In this disease, tibial cartilage is not yet ripe for ossification, but it also results in lameness, death, and moral convictions of commercial poultry due to numerous apoptotic changes on cell level. Read More

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