Results 51 to 60 of about 6,534 (202)

Specific force of the vastus lateralis in adults with Achondroplasia. [PDF]

, 2018
Achondroplasia is a clinical condition defined by shorter stature and disproportionate limb length. Force production in able-bodied individuals (controls) is proportional to muscle size, but given the disproportionate nature of Achondroplasia ...
Carl Payton, Payton, C, Burden, A, David T. Sims, Onambele-Pearson, GL, Adrian Burden, Morse, Christopher, Sims, David, Gladys L. Onambélé-Pearson, Christopher I. Morse   +9 more
core   +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

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

Inclusion of adoption as a pregnancy management option in prenatal genetic counseling practice

Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.
Abstract The current study assessed prenatal genetic counselors' experiences, comfort levels, and preparedness in discussing adoption as a pregnancy management option following a prenatal diagnosis of a non‐life‐limiting anomaly and/or genetic condition.
Emma Billings, Leslie Dunnington, Meagan Choates, Syed S. Hashmi, Megan Morand, Pamela Promecene, Stephanie Thompson, Jennifer Czerwinski   +7 more
wiley   +1 more source

Analysis of Real‐World Data Utilization in the Orphan Drug Approval Process: Focusing on New Drug Marketing Applications Submitted to the FDA

Clinical Pharmacology &Therapeutics, Volume 119, Issue 5, Page 1340-1349, May 2026.
In the field of rare diseases—where traditional clinical trials are often impractical—real‐world data (RWD) have emerged as a scientifically valid alternative to support regulatory decision making. This study systematically evaluates the utilization of RWD in orphan drug approvals by the FDA Center for Drug Evaluation and Research (CDER) over the past ...
Minji Kim, Eunjin Hong
wiley   +1 more source

Medical complications in Australian children with achondroplasia

, 2021
This thesis builds on the currently available literature on medical complications in achondroplasia, the most common skeletal dysplasia causing short stature in humans.
Jennifer Armstrong (5499434)
core   +1 more source

Achondroplasia and enchondromatosis: report of three boys.

, 2007
We report on three boys suffering from achondroplasia concurrent with enchondromatosis-like metaphyseal changes. Two boys who were examined by molecular analysis harbored a mutation of FGFR3, which occurs in most achondroplastic individuals.
Numakura, C, Nishimura, G, Adachi, M, Kim, OH, Kobayashi, H, Hasegawa, Y   +5 more
core   +1 more source

Experiences of children and adolescents living with achondroplasia and their caregivers

Molecular Genetics & Genomic Medicine, 2022
Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), leads to significant multisystem complications across the lifespan that may affect the health‐related quality of life (HRQoL) of ...
Renée Shediac, Olga Moshkovich, Heather Gerould, Rachel Ballinger, Agnes Williams, M. Alex Bellenger, Jennifer Quinn, Julie Hoover‐Fong, Klaus Mohnike, Ravi Savarirayan, Dominique Kelly   +10 more
doaj   +1 more source

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

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 623-635, May 2026.
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

Achondroplasia Associated with Bilateral Keratoconus

, 2012
We report a rare case of bilateral keratoconus in association with achondroplasia. A 26-year-old male, with a known case of achondroplasia, complained of bilateral gradual deterioration in vision for the past few years.
Ghada Y. Al Bin Ali, Samar A. Al-Swailem, Ammar M. Al Mahmood, Hind M. Al Katan   +3 more
core   +1 more source