Results 11 to 20 of about 7,277 (195)
Diagnosis of Achondroplasia at Birth: A Case Report
Journal of Nepal Medical Association, 2020 Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead
Suzit Bhusal +5 more
doaj +2 more sources
Orphanet Journal of Rare DiseasesDue to the craniofacial anatomy of people with achondroplasia, sleep-disordered breathing (SDB) occurs more frequently than in the average stature population.
Brigitte Fauroux +18 more
doaj +2 more sources
Advances in the treatment of achondroplasia [PDF]
Journal of Education, Health and SportAchondroplasia is a condition resulting from a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, representing the predominant etiology of short height in humans.
Patrycja Jędrzejewska-Rzezak
doaj +2 more sources
Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome [PDF]
Case Reports in Obstetrics and Gynecology, 2015 Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration.
Esther Perez-Carbajo +5 more
doaj +2 more sources
Genetic Bone Diseases: A Scoping Review of Pathology, Symptoms, Diagnosis, Treatment, and New Horizons. [PDF]
Adv Genet (Hoboken)This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Jones C, Jayasuriya AC.
europepmc +2 more sources
Arthroplasty Today, 2021 Background: Achondroplasia is the most common skeletal dysplasia, and total joint arthroplasty of the hip and/or knee in this patient population may present unique challenges. Methods: All patients undergoing primary total hip or total knee arthroplasty (
Harold G. Moore, BS +5 more
doaj +1 more source
Achondroplasia and its oral manifestations
Journal of Primary Care Dentistry and Oral Health, 2023 Achondroplasia is the most common type of skeletal dysplasia that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of special interest in dentistry because of its typical craniofacial manifestations.
P N Nanmaran +4 more
doaj +1 more source
, 2022 While medical complications are well described in children with achondroplasia, our scoping review found few studies concerning adults. The Norwegian Adult Achondroplasia Study included 50 Norwegian adults, aged 16–87 years, with genetically confirmed ...
Fredwall, Svein Otto
core +1 more source
Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report
BMC Medical Genomics, 2023 Background Achondroplasia is a congenital skeletal system malformation caused by missense variant of FGFR3 gene with an incidence of 1 per 20,000–30,000 newborns, which is an autosomal dominant inheritance disease.
Shujun Chen +4 more
doaj +1 more source
BMC Pediatrics, 2022 Background Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression ...
Juan Llerena +17 more
doaj +1 more source