Results 31 to 40 of about 6,199 (168)
Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum [PDF]
Due to the craniofacial anatomy of people with achondroplasia, sleep-disordered breathing (SDB) occurs more frequently than in the average stature population.
Encarna Guillen-Navarro +37 more
core +1 more source
Optimising care and follow-up of adults with achondroplasia [PDF]
, 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 ...
AlSayed, Moeenaldeen +15 more
core +1 more source
Unilateral Frontosphenoidal Craniosynostosis with Achondroplasia: A Case Report [PDF]
, 2011 Isolated, premature fusion of the frontosphenoidal suture is rare. This report describes an unusual combination of frontosphenoidal craniosynostosis and achondroplasia.
Jerome L. Gorski +2 more
core +1 more source
Sleep and upper airway obstruction in children with achondroplasia [PDF]
, 1996 Objective: The features of achondroplasia, the most common form of dwarfism, includes short cranial base and midface hypoplasia; both abnormalities increased the risk of upper airway obstruction during sleep, The aim of our study was to evaluate sleep ...
V. Castronovo +13 more
core +1 more source
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
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 +9 more
core +1 more source
Journal of Obstetrics and Gynaecology Research, Volume 52, Issue 7, July 2026.ABSTRACT Spondyloepiphyseal dysplasia congenita (SEDC) is a rare skeletal dysplasia caused by heterozygous pathogenic variants in COL2A1, with short‐trunk stature and respiratory compromise during pregnancy. We report a 30‐year‐old primigravida with SEDC who achieved full‐term delivery under multidisciplinary management.
Masako Ueki +9 more
wiley +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
Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia [PDF]
, 2018 Introduction: Achondroplasia (ACH) is the most common form of skeletal dysplasia of genetic origin in humans which is characterized by disproportionate rhizomelic dwarfism.
Mitesh Shrestha +4 more
core +1 more source
Advanced Genetics, Volume 7, Issue 2, June 2026.This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Colin Jones, Ambalangodage C. Jayasuriya
wiley +1 more source