Results 31 to 40 of about 5,366 (132)

Neurodevelopmental and neurological features in children with hypochondroplasia

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter, Rhoda Akilapa, Alessandra Cocca, Melita D. Irving   +3 more
wiley   +1 more source

Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study

Orphanet Journal of Rare Diseases
Introduction Achondroplasia is the most common skeletal dysplasia associated with disproportionately short stature and is associated with high disease burden and unmet medical need.
Pranav Abraham, Gandarvaka Miles, Natalia Petruski-Ivleva, Kalyani Hawaldar, Cemre Robinson, Kenneth I. Berger   +5 more
doaj   +1 more source

Advances in the treatment of achondroplasia

Journal of Education, Health and Sport
Achondroplasia 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   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Acute type A aortic dissection repair in an octogenarian with achondroplasia: a case report

Surgical Case Reports, 2018
Background Achondroplasia is an inherited disorder and the most common type of short-limbed dwarfism in human beings, affecting more than 250,000 individuals worldwide.
Shuji Moriyama, Masahiko Hara, Yasushi Kaneko   +2 more
doaj   +1 more source

Clinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study

Orphanet Journal of Rare Diseases
Background Achondroplasia, a disease characterized by disproportionate short stature and increased morbidity, affects daily function and quality of life over the lifetime of the individual.
Nadia Merchant, Jose Alvir, Paulette Negron Ericksen, Jane Loftus, Jose Francisco Cara, Alison Slade, Michael P. Wajnrajch, Christine L. Baker   +7 more
doaj   +1 more source

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

Therapeutic Advances in Musculoskeletal Disease, 2022
Background: Achondroplasia is the most common short-limbed skeletal dysplasia resulting from gain-of-function pathogenic variants in fibroblast growth factor receptor 3 ( FGFR3 ) gene, a negative regulator of endochondral bone formation.
Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B. Bober, John Phillips, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover-Fong, Melita Irving   +25 more
doaj   +1 more source

Periodontal and orthodontic management of impacted canines

Periodontology 2000, EarlyView.
Abstract The maxillary and mandibular canines are described by many clinicians as the “cornerstone” of the arch. When in their optimal position, they play a critical role in providing a well‐balanced occlusal scheme that contributes toward functional as well as neuromuscular stability, harmony, esthetics, and dentofacial balance.
Mohammad Qali, Chenshuang Li, Chun‐Hsi Chung, Nipul Tanna   +3 more
wiley   +1 more source

Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum

Orphanet Journal of Rare Diseases
Due to the craniofacial anatomy of people with achondroplasia, sleep-disordered breathing (SDB) occurs more frequently than in the average stature population.
Brigitte Fauroux, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Mieke Boon, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Melita Irving, Philip Kunkel, Núria Madureira, Mohamad Maghnie, Josef Milerad, Klaus Mohnike, Geert Mortier, Lino Nobili, Zagorka Pejin, Marco Sessa, Sérgio B. Sousa   +18 more
doaj   +1 more source

Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia. [PDF]

PLoS ONE, 2018
Achondroplasia is a rare genetic disease is characterized by abnormal bone development and early obesity. While the bone aspect of the disease has been thoroughly studied, early obesity affecting approximately 50% of them during childhood has been ...
Celine Saint-Laurent, Stephanie Garcia, Vincent Sarrazy, Karine Dumas, Florence Authier, Sophie Sore, Albert Tran, Philippe Gual, Isabelle Gennero, Jean-Pierre Salles, Elvire Gouze   +10 more
doaj   +1 more source