Results 61 to 70 of about 11,039 (220)

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the US

Orphanet Journal of Rare Diseases, 2021
Background Achondroplasia is the most common genetic skeletal disorder causing disproportionate short stature/dwarfism. Common additional features include spinal stenosis, midface retrusion, macrocephaly and a generalized spondylometaphyseal dysplasia ...
Hoover-Fong Je, Schulze Kj, Alade Ay, Bober Mb, Gough E, Hashmi Ss, Hecht Jt, Legare Jm, Little Me, Modaff P, Pauli Rm, Rodriguez-Buritica Df, Serna Me, Smid C, Liu C, McGready J   +15 more
semanticscholar   +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

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Achondroplasia current concept of orthopaedic management

Journal of Children's Orthopaedics
Achondroplasia, the most common form of inherited disproportionate short stature, is caused by mutations in the fibroblast growth factor receptor 3 gene.
Gabriel T. Mindler, A. Stauffer, Catharina Chiari, Kiril Mladenov, Joachim Horn   +4 more
semanticscholar   +1 more source

Health Supervision for People With Achondroplasia

Pediatrics, 2020
Achondroplasia is the most common short-stature skeletal dysplasia, additionally marked by rhizomelia, macrocephaly, midface hypoplasia, and normal cognition.
J. Hoover-Fong, C. Scott, Marilyn C. Jones   +2 more
semanticscholar   +1 more source

Thoracolumbar stenosis and neurologic symptoms: Quantitative MRI in achondroplasia

Journal of Neuroimaging, 2022
Whole‐spine magnetic resonance imaging (MRI) studies, to identify structural abnormalities associated with the development of symptomatic spinal stenosis in achondroplasia.
R. Calandrelli, F. Pilato, L. Massimi, R. Onesimo, G. D’Apolito, L. Tenore, C. Leoni, G. Zampino, C. Colosimo   +8 more
semanticscholar   +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

European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

Advances in Therapy
Achondroplasia is a lifelong condition requiring lifelong management. There is consensus that infants and children with achondroplasia should be managed by a multidisciplinary team experienced in the condition.
S. Fredwall, M. AlSayed, T. Ben-Omran, Silvio Boero, V. Cormier-Daire, Brigitte Fauroux, E. Guillén-Navarro, Florian Innig, Philip Kunkel, Christian Lampe, M. Maghnie, Klaus Mohnike, Geert Mortier, Zagorka Pejin, M. Sessa, Sérgio B Sousa, M. Irving   +16 more
semanticscholar   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois, Louise Paret, Jacqueline Aziza, Paul Guerby, Christophe Vayssière, Charlotte Dubucs   +5 more
wiley   +1 more source