Results 31 to 40 of about 11,039 (220)
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
Burden and Treatment of Achondroplasia: A Systematic Literature Review
Advances in Therapy, 2023 Background Achondroplasia is the most common form of skeletal dysplasia. Recent advances in therapeutic options have highlighted the need for understanding the burden and treatment landscape of the condition. This systematic literature review (SLR) aimed
Molly C Murton +6 more
semanticscholar +1 more source
Orphanet Journal of Rare Diseases, 2023 Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the first 2 years and
M. Irving +15 more
semanticscholar +1 more source
Orphanet Journal of Rare Diseases, 2023 Background The purpose of this study was to describe the frequency and risk factors for orthopedic surgery in patients with achondroplasia. CLARITY (The Achondroplasia Natural History Study) includes clinical data from achondroplasia patients receiving ...
Nickolas J. Nahm +14 more
semanticscholar +1 more source
Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients
Orphanet Journal of Rare Diseases, 2023 Background Achondroplasia is the most frequent FGFR3-related chondrodysplasia, leading to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea.
A. Morice +12 more
semanticscholar +1 more source
Nursing Children and Young People, 2016 Achondroplasia, like all syndromes, is recognised by a collection of typical anomalies. It is a cause of short stature; the average adult height being about 4 feet.
Doreen, Crawford, Annette, Dearmun
+5 more sources
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
Vosoritide, a miracle drug, covering unmet need in achondroplasia: A regulatory update.
Intractable & Rare Diseases Research, 2023 Dwarfism is a rare condition characterized by small stature. Achondroplasia is predominantly considered the leading cause of dwarfism. Although the condition is not life-threatening, it dramatically impacts the social life of the patient.
Simran +4 more
semanticscholar +1 more source
Optimising care and follow-up of adults with achondroplasia
Orphanet Journal of Rare Diseases, 2022 Background Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently, been relatively lacking, and ...
Svein Fredwall +14 more
doaj +1 more source
Arthroplasty Today, 2021 Genu varum in patients with achondroplasia is common and is often exacerbated by the associated generalized ligamentous laxity. Despite this, development of knee osteoarthritis is rare. There are only a few previously published case reports of total knee
Ryan Stancil, MD, MPH +3 more
doaj +1 more source