Accuracy and user experience of dental diagnosis of a patient with cleidocranial dysplasia using immersive virtual reality and cone-beam computed tomography multiplanar reconstructions.

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.

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

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.

Expanded phenotypes and pathogenesis of geleophysic dysplasia 3 resulted from a de novo LTBP3 mutation: A case report.

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.

Case Report: A Novel Homozygous Variant of the Gene in Rare Pycnodysostosis.

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.

Bone fracture after minor trauma in Pyle's disease: A rare case in an adult.

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.

Impaired salivary gland function in children with osteogenesis imperfecta: a case-control study.

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.

Otologic Manifestations in Patients with Achondroplasia: A Multicenter Study.

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.

Successful treatment of SAPHO syndrome with oral abrocitinib: a case report.

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.

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

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.

COL9A1-related disorder with pectus carinatum, without epiphyseal dysplasia: case report and review of literature.

COL9A1 encodes the alpha-1 chain of type IX collagen heterotrimer, which is a vital component of collagen fibrils in hyaline cartilage. There are preliminary lines of evidence suggesting that COL9A1 mutations may be associated with autosomal dominant multiple epiphyseal dysplasia (MED), a disorder affecting the epiphysis of long bones. With only 2 reported cases (both from the same family) of MED in autosomal dominant COL9A1-related disorders (MIM 614135) in the clinical scientific literature hitherto, the phenotype is poorly understood at present.

Lung function in adult patients with osteogenesis imperfecta: a cohort study.

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.

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.

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.

From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.

Multiple epiphyseal dysplasia (MED) is a heterogeneous group of chondrodysplasia characterized by arthralgia, early onset osteoarthropathy, and the radiographic findings of small, flat, and irregular-shaped epiphyses. Some patients with MED have mild short stature as well. MED is genetically heterogeneous caused by pathogenic variants in COMP, MATN3, COL9A1, COL9A2, COL9A3, and SLC26A2.

Atypical presentation of Dyggve-Melchior-Clausen disease in a Moroccan child without developmental delay and intellectual disabilities.

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.

The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults.

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.

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

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.

Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the Gene.

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.

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

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.

Myriad of congenital excavated optic disc anomalies in achondroplasia.

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.