33,860 results match your criteria: "Schwartz-Jampel Syndrome"

Introduction: Accuracy and user experience of dental diagnosis for a patient with cleidocranial dysplasia (CCD) using immersive virtual reality (VR) and cone-beam computed tomography multiplanar reconstruction methods were evaluated.

Methods: Dental students (n = 40) were randomly assigned to VR or MP groups. VR participants manipulated and visualized the rendered 3-dimensional model using VR hardware and software.

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The impact of obesity on sleep, pulmonary and chest wall restriction in Osteogenesis Imperfecta: a pilot study.

Orphanet J Rare Dis

December 2024

Dipartimento di Elettronica, Informazione e Bioingegneria, Politecnico di Milano, Piazza Leonardo da Vinci, 20133, Milan, Italy.

Introduction: Osteogenesis Imperfecta (OI) is characterised by brittle bones, severe skeletal deformities, low sleep quality, and restricted breathing. We aimed to distinguish how disease and obesity affect these results.

Methods: According to BMI, we considered four groups of peer adults (median age: 35.

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Rationale: The aim of this study is to investigate the de novo mutation and clinical features of latent transforming growth factor-beta-binding protein 3 (LTBP3) gene-associated geleophysic dysplasia 3, and possible mechanisms of action.

Patient Concerns: A nonconsanguineous couple was recruited for this study due to the presence of intrauterine growth restriction. The pregnant woman and her elder daughter presented with skeletal abnormalities with diabetes.

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Pycnodysostosis (PD) is a rare autosomal recessive skeletal dysplasia from impaired bone resorption due to osteoclastic dysfunction. The features of PD are deformity of the skull, maxilla, and phalanges; osteosclerosis; and bone fragility. We describe the case of a patient with complaints of multiple fractures of the lower extremities in the anamnesis and pain in the lower extremities, cervical spine, and shoulder girdle during physical exertion.

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Pyle's disease (PD) is a rare autosomal recessive metaphyseal dysplasia with approximately 30 reported cases and has recently gained interest due to its association with specific genes. While most cases are diagnosed in childhood and are asymptomatic, we present the case of a 39-year-old woman who presented to the Emergency Department with left knee pain, patellar fracture, and "Erlenmeyer flask" deformity. Retrospective review of imaging studies and medical history revealed the symmetric and systemic nature of the skeletal disorder, confirming the diagnosis of PD.

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Objectives: The aim of the present study was to evaluate salivary gland function and oral health status in Osteogenesis imperfecta (OI) children, comparing to a control group, and to investigate the possible influence of bisphosphonate (BP) treatment.

Materials And Methods: Patients aged 8-15 years with any OI molecularly confirmed and gender-matched healthy control were consecutively recruited at the Section of Pediatric Dentistry (Dental School-University of Turin). Comprehensive dental examinations were conducted to evaluate carious lesions, plaque and gingival index, stimulated saliva flow rate, pH, and buffer capacity.

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Background: Achondroplasia, the most prevalent form of skeletal dysplasia involving short stature, necessitates a multidisciplinary approach that includes otology and auditory rehabilitation. Despite this, the clinical characteristics of hearing loss and otologic manifestations in achondroplasia patients remain poorly defined. This study aimed to explore the prevalence and treatment outcomes of otologic disease in individuals with achondroplasia.

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Aim: SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a rare autoimmune disorder characterized by typical cutaneous lesions (palmoplantar pustulosis and eruptive acne) and osteoarticular symptoms (aseptic osteomyelitis and joint inflammation). This study aims to evaluate the therapeutic efficacy and safety of Janus kinase 1 (JAK1) inhibitor abrocitinib in patients with SAPHO syndrome.

Methods: We presented a patient with SAPHO syndrome with accelerated disease progression who did not respond to traditional therapies.

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Expert consensus for the management of patients with achondroplasia in treatment with vosoritide.

An Pediatr (Engl Ed)

December 2024

Unidad de Endocrinología Pediátrica, AGC de la Infancia y Adolescencia, Hospital Universitario Central de Asturias, Oviedo, Spain; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain; Consorcio de Investigación Biomédica en Red de Epidemiología y Salud Pública (CIBERESP), Madrid, Spain; Facultad de Medicina y Ciencias de la Salud, Universidad de Oviedo, Oviedo, Spain.

Introduction: Patients with achondroplasia present, in addition to disproportionate short stature, multiple manifestations that require a comprehensive approach. The present consensus of experts in Spain responds to the need to establish clear guidelines for the management of achondroplasia with the introduction of a new treatment, vosoritide.

Material And Methods: A panel of six experts in achondroplasia participated in the development of the consensus.

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Background: Osteogenesis imperfecta (OI) is a rare hereditary bone disease resulting from a defect in collagen synthesis or processing, leading to bone fragility, frequent fractures and skeletal deformities. OI is associated with increased respiratory morbidity and mortality, but the mechanisms of lung involvement are poorly understood, and there are no data on the natural history of lung function. We studied lung function over time in a cohort of adult OI patients at one center.

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Human craniofacial shape is highly variable yet highly heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using achondroplasia as an example, we introduce a syndrome-informed phenotyping approach to identify genomic loci associated with achondroplasia-like facial variation in the general population. We compare three-dimensional facial scans from 43 individuals with achondroplasia and 8246 controls to calculate achondroplasia-like facial scores.

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Background: Dyggve-Melchior-Clausen (DMC) disease is a rare autosomal recessive disorder primarily characterized by spondylo-epimetaphyseal dysplasia, intellectual disability, and distinctive facial features. Patients typically present with severe developmental delays and cognitive impairments, defining features of the syndrome.

Methods And Results: This case report examines a 13-year-old Moroccan child diagnosed with DMC disease, presenting classical skeletal abnormalities, including spondylo-epimetaphyseal dysplasia, as confirmed through exome sequencing.

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Background: The IMPACT Survey explored the humanistic, clinical, and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers, and wider society. Two previous publications report research methodology, initial insights of the survey, and cost of illness of OI. Here, we present data on the impact of OI on the quality of life (QoL) of adults with OI and explore potential drivers of this impact.

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Feasibility study of the psychosocial effects of an online mindfulness intervention in children and adolescents with achondroplasia and their parents.

Eur J Med Genet

December 2024

Faculty of Health Sciences and Welfare, University of Vic-Central University of Catalonia (UVic-UCC), Vic, Catalonia, Spain; Research Group on Methodology, Methods, Models, and Outcomes of Health and Social Sciences (M3O), Center for Health and Social Care Research (CESS), University of Vic-Central University of Catalonia (UVic-UCC), Vic, Catalonia, Spain; Grífols Foundation Chair of Bioethics, University of Vic-Central University of Catalonia (UVic-UCC), Vic, Catalonia, Spain.

Introduction: Achondroplasia is a common skeletal dysplasia caused by a mutation in the FGFR3 gene, leading to disproportionate short stature and various clinical features. Despite the absence of definitive pharmacological treatments, mindfulness-based interventions may offer psychosocial benefits for affected individuals and their families.

Objectives: This study aimed to assess the feasibility and psychosocial effects of an online mindfulness intervention for children and adolescents with achondroplasia and their parents.

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Article Synopsis
  • - Multiple epiphyseal dysplasia (MED) is a group of genetic skeletal disorders causing epiphyseal abnormalities and mild short stature, often starting in childhood with joint pain and stiffness leading to degenerative issues.
  • - The most common form, caused by mutations in the Cartilage Oligomeric Matrix Protein (COMP) gene, typically affects the hips and can include osteochondritis dissecans (OCD) as a complication.
  • - A case study of a 24-year-old man with COMP-MED reveals multiple OCD occurrences, highlighting the potential for this condition to appear in related forms of MED, expanding its recognized clinical features.
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Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the Gene.

Genes (Basel)

October 2024

Replicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia 74605-050, GO, Brazil.

Camurati-Engelmann Disease (CED), or Progressive Diaphyseal Dysplasia, is a rare autosomal dominant disorder caused by heterozygous mutations in the Gene, essential for bone regeneration. This study examines the genotype-phenotype relationship in a family diagnosed with CED, specifically focusing on a missense variant (c.653G>A, p.

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Spectrum of IDH-mutant tumors in Ollier-Maffucci disease: the triple interaction theory.

Orphanet J Rare Dis

November 2024

Sorbonne Université, Inserm, CNRS, UMR S 1127, Institut du Cerveau, ICM, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, Service de Neuro-oncologie, Paris, France.

We propose to refine our understanding of the pathophysiology underlying the tumor spectrum observed in patients with Ollier disease (OD) and Maffucci syndrome (MS). On one hand, assuming that all IDH-mutated tumors (as well as enchondromas) observed in OD-MS patients derive from one IDH-mutant cell giving rise to different lineages, the observation of different tumors arising in organs deriving from the neuroectoderm, mesoderm and endoderm points towards a very early post-zygotic event for the IDH mutation. To explain then that the spectrum of IDH-mutated tumors is restricted to some types of tumors, we propose the following hypothesis: - First, we posit that not every mutated cell of the lineage will "express" the IDH mutant phenotype.

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Achondroplasia is a genetic condition resulting from specific disruptions in the formation of endochondral bone. Telecanthus, exotropia, angle anomalies and cone-rod dystrophy have been observed as associated ophthalmic features in patients with achondroplasia. Here, we present a case of achondroplasia associated with unique ocular features including telecanthus, esotropia and bilateral microphthalmos.

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[Achondroplasia : New era of orthopedic treatment?].

Orthopadie (Heidelb)

December 2024

Abteilung für Kinderorthopädie und Fußchirurgie, Orthopädisches Spital Speising, Speisinger Str. 109, 1130, Wien, Österreich.

Achondroplasia is the most common skeletal dysplasia. With the development of new growth-promoting drug treatment for children and adolescents with achondroplasia, multidisciplinary care has become increasingly more important. In addition to orthopedic care, a specialized team comprised of pediatrics/endocrinology, radiology, neurosurgery, otorhinolaryngology, anesthesiology, physiotherapy, psychology and other disciplines is necessary to develop and implement a holistic concept to improve the quality of life for individuals affected by achondroplasia.

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