Prevalence and Associated Factors of Ankle Osteoarthritis in Achondroplasia: A Retrospective Radiographic Assessment of 134 Patients.

Objective: The primary aim of this study is to examine the prevalence of ankle osteoarthritis in patients with achondroplasia and to assess the impact of surgical correction of lower limb alignment on this prevalence. The secondary aim is to identify radiographic parameters associated with ankle osteoarthritis.

Design: This retrospective cohort study included 134 patients (268 ankles) who visited our institution between March 2014 and February 2023.

Prenatal diagnosis of achondroplasia and hypochondroplasia using three-dimensional computed tomography: a case series at a single institution.

Background: Fetal skeletal dysplasia (FSD) is a group of systemic bone and cartilage disorders that develop prenatally and can be detected using fetal ultrasonography. However, it is unsuitable for skeletal analysis because it is reflected by supersonic waves in the bone cortex. Three-dimensional computed tomography (3D-CT) is a suitable alternative and has improved the differential diagnosis of FSD during pregnancy.

Anesthetic management of pregnant women with skeletal dysplasia and short stature: a case report.

Skeletal dysplasias and short stature are a heterogeneous group of pathologies in which achondroplasia is the most common presentation. The presence of bone deformities leads to thoracic and airway changes that can complicate ventilation and airway management. Most individuals with skeletal dysplasia present spinal abnormalities that increase the difficulty of administering neuraxial anaesthesia.

CDK8 inhibitor KY-065 rescues skeletal abnormalities in achondroplasia model mice.

Cyclin-dependent kinase 8 (CDK8) is a transcription-related CDK family member implicated in the regulation of bone homeostasis, and we recently demonstrated that our internally developed CDK8 inhibitor KY-065 can prevent postmenopausal osteoporosis in a mouse model. Achondroplasia (ACH), the most common form of genetic dwarfism in humans, is caused by a gain-of-function mutation in fibroblast growth factor receptor 3 (FGFR3), a receptor tyrosine kinase that activates downstream mitogen-activated protein kinase (MAPK) and signal transducer and activator of transcription (STAT) signaling pathways. The first precision drug approved for the treatment of ACH in children, the C-type natriuretic peptide analog vosoritide, antagonizes the MAPK pathway, while there are currently no effective and safe medications targeting the STAT1 pathway.

Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.

Purpose: The multisystem clinical manifestations and complications of achondroplasia, the most common form of disproportionate short stature, can cause functional impairment and psychosocial burden. The Lifetime Impact Study for Achondroplasia (LISA), aimed to assess health-related quality of life and medical resource utilization among Latin America patients with achondroplasia.

Methods: Data were collected from individuals aged 3 years and above in Argentina, Brazil, and Colombia between 2018 and 2021.

Intrauterine blood transfusion causes dose- and time-dependent signal alterations in the liver and the spleen on fetal magnetic resonance imaging.

Background: Intrauterine transfusions (IUTs) are a life-saving treatment for fetal anemia. However, with each transfusion, iron bypasses uptake regulation through the placenta and accumulates in fetal organs. Unlike other imaging modalities, fetal magnetic resonance imaging (MRI) is capable of non-invasively assessing fetal liver disease and/or organ iron overload.

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.

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.

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.

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.

Anatomical Characteristics of Cervicomedullary Compression on MRI Scans in Children with Achondroplasia.

This retrospective study assessed anatomical characteristics of cervicomedullary compression in children with achondroplasia. Twelve anatomical parameters were analyzed (foramen magnum diameter and area; myelon area; clivus length; tentorium and occipital angles; brainstem volume outside the posterior fossa; and posterior fossa, cerebellum, supratentorial ventricular system, intracranial cerebrospinal fluid, and fourth ventricle volumes) from sagittal and transversal T1- and T2-weighted magnetic resonance imaging (MRI) scans from 37 children with achondroplasia aged ≤ 4 years (median [range] 0.8 [0.

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.

Quality of Life in Short Stature Children With Skeletal Dysplasia: A Cross Sectional Study Using the Quality of Life in Short Stature Youth Questionnaire.

Patients with skeletal dysplasia, including achondroplasia (ACH) and osteogenesis imperfecta (OI), exhibit a variety of short stature, which affect various aspects of their quality of life (QoL). The QoL of adult patients with skeletal dysplasia have been reported; however, research on QoL in children remains limited. The QoL in Short Stature Youth (QoLISSY) is a QoL survey tool developed specifically for short stature children and adolescent.

[Achondroplasia : New era of orthopedic treatment?].

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.

Intradural T12-L1 disc herniation in a patient with achondroplasia: A case report.

Background: There are very few reports of intradural disc herniations associated with achondroplasia described in the literature.

Case Description: A patient with achondroplasia presented with progressive paraparesis attributed to a magnetic resonance-documented intradural disc herniation at the T12-L1 level occupying more than 90% of the spinal canal. It was successfully removed through a T12 laminectomy with durotomy; note a laminectomy would have been contraindicated if this had been an extradural anterior/anterolateral disc.

Meclozine and growth hormone ameliorate bone length and quality in experimental models of achondroplasia.

Introduction: Achondroplasia (ACH) is a common skeletal dysplasia associated with short-limbed short stature caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Meclozine was found to inhibit FGFR3 signaling using a drug repositioning strategy. In some countries, growth hormone (GH) has been employed to ameliorate short stature in children with ACH.

Challenges to self-care and domestic life for adults with disproportionate short statured skeletal dysplasia: a mixed method systematic review.

Purpose: This review aims to assess the impact of pain and limitations across self-care and domestic tasks among adults with disproportionate short statured skeletal dysplasia (SD).

Methods: A systematic search was conducted across six electronic databases without language or year of publication restrictions from the date of inception of each database through to 31 July 2024. Clear inclusion criteria were established before search initiation and quality assessment was performed using the Mixed Methods Appraisal Tool (MMAT).

Retrospective evaluation of obstetric processes in patients with Familial Mediterranean Fever's disease: The three years experience of a tertiary rheumatology clinic.

Objectives: Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease affecting both genders in reproductive age. In this study, we aimed to investigate the relation between FMF and pregnancy on both maternal and fetal aspects.

Material And Methods: In this retrospective, single-center, descriptive study we analysed total of 95 pregnancies of 40 FMF patients.

Phase 2 Trial of Vosoritide Use in Patients with Hypochondroplasia: A Pharmacokinetic/Pharmacodynamic Analysis.

Introduction: Vosoritide is a C-type natriuretic peptide (CNP) analog that binds its receptor on chondrocytes, promoting growth by inhibiting the ERK1/2-MAPK pathway. We previously reported the results of a phase II study in children with hypochondroplasia. Vosoritide led to an average increase in annualized height velocity (AHV) of 1.

Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy.

Achondroplasia is the most common form of human dwarfism caused by mutations in the FGFR3 receptor tyrosine kinase. Current therapy begins at 2 years of age and improves longitudinal growth but does not address the cranial malformations including midface hypoplasia and foramen magnum stenosis, which lead to significant otolaryngeal and neurologic compromise. A recent clinical trial found partial restoration of cranial defects with therapy starting at 3 months of age, but results are still inconclusive.