Results 61 to 70 of about 7,277 (195)
Cardiovascular risk in achondroplasia: a systematic review [PDF]
Background: Achondroplasia is the most common form of disproportionate short stature and is associated with reduced life expectancy. It is not clear to what extent cardiovascular disease (CVD) is responsible for this.
Mason, Avril +5 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1372-1377, June 2026.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
American Journal of Roentgenology, 1967 L O, Langer, P A, Baumann, R J, Gorlin
openaire +3 more sources
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 +5 more
core +1 more source
High-resolution computed tomography temporal bone imaging in achondroplasia
, 2021 Achondroplasia is a genetic condition caused by disordered endochondral ossification, which leads to rhizomelic dwarfism and midfacial hypoplasia. Additionally, several morphologic changes in the temporal bone are thought to at least partially contribute
Kochar, Puneet S +2 more
core +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 +7 more
wiley +1 more source
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
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 +3 more
core +1 more source
Achondroplasia: Etiology, Clinical Presentation, and Management
, 2017 By using a literature review, this article examines the implications of achondroplasia. The following areas are discussed: the clinical definition of the disease; the incidence, etiology, and pathogenesis; phenotypical characteristics and natural history
Daugherty, Allyson, Allyson Daugherty
core +1 more source
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 +7 more
wiley +1 more source