Results 21 to 30 of about 7,277 (195)

Gait in children with achondroplasia – a cross-sectional study on joint kinematics and kinetics

BMC Musculoskeletal Disorders, 2022
Background Children with achondroplasia have extreme short stature due to short limbs, as well as several other clinical features that may affect their gait.
Eva W. Broström, Lotte Antonissen, Johan von Heideken, Anna-Clara Esbjörnsson, Lars Hagenäs, Josefine E. Naili   +5 more
doaj   +1 more source

Achondroplasia

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

Clinical management of achondroplasia

Achondroplasia, one of the skeletal dysplasias and the commonest form of disproportionate short stature, has a different developmental and growth profile compared to average stature children.
Irving MD, Wright MJ
core   +5 more sources

Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age-Stratified Guidelines. [PDF]

Orthod Craniofac Res
ABSTRACT This systematic review aimed to collect and appraise the clinical outcomes of all orthopaedic, orthodontic and surgical interventions in ACH patients. Following PROSPERO protocol, multiple database sources were searched to December 2024 with no language restrictions for (i) genetically confirmed ACH; (ii) any orthodontic/orthopaedic ...
Farronato M, Bedeschi MF, Grippaudo C, Tartaglia GM, Rinaldi B, Maspero C.   +5 more
europepmc   +2 more sources

Real-world evidence in achondroplasia: considerations for a standardized data set

Orphanet Journal of Rare Diseases, 2023
Background Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital assets, and ...
Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving   +24 more
doaj   +1 more source

Complex Primary Total Knee Arthroplasty in a Patient with Achondroplasia, Osteoarthritis, and Severe Coronal Instability

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, Michael Goldberg, MD, Maryse Bouchard, MD, MSc, Adam Sassoon, MD, MS   +3 more
doaj   +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, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valerie Cormier-Daire, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa, Michael Wright   +14 more
doaj   +1 more source

Orofacial manifestations of achondroplasia [PDF]

, 2012
Achondroplasia (Online Mendelian Inheritance in Man [OMIM] 100800), is considered as a form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening.
Tanwar, Renu, Kaushik, Atul, Kumar, Munish, Vinod, V.C., Rohilla, Smriti   +4 more
core   +1 more source

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child

Oman Journal of Ophthalmology, 2023
Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3.
H Kishore
doaj   +1 more source

A STUDY OF ACHONDROPLASIA [PDF]

Archives of Pediatrics and Adolescent Medicine, 1920
INTRODUCTION Ita P. appeared in the orthopedic outpatient department of the Children's Hospital for treatment because of a "bunch" on her back. As usual, a roentgen-ray examination was made. The plates showed widely separated vertebral bodies with a peculiar wedge-shaped vertebra at the point of the "bunch." As this did not seem to be due to any of ...
openaire   +1 more source