Related Experiment Video
Updated: Oct 1, 2025
A Rat Tibial Growth Plate Injury Model to Characterize Repair Mechanisms and Evaluate Growth Plate Regeneration Strategies
Published on: July 4, 2017
Medical complications in children with achondroplasia
Jennifer A Armstrong1,2, Verity Pacey2,3, Louise J Tofts2,4
1Department of Orthopaedics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Insights
This study tracked medical issues in children with achondroplasia, finding high rates of complications like stenosis and hearing impairment. These findings aid clinicians in managing achondroplasia and informing families about potential health outcomes.
Area of Science:
- Medical research
- Pediatrics
- Genetics
Background:
- Achondroplasia is a common form of dwarfism.
- Children with achondroplasia experience various medical complications.
- Understanding these complications is crucial for management.
Purpose of the Study:
- To determine the rates of medical investigations, complications, interventions, and outcomes in children with achondroplasia.
- To provide contemporary data on the health challenges faced by children with achondroplasia.
- To inform clinical practice and family counseling.
Main Methods:
- Retrospective data collection from clinical records.
- Inclusion of children and adolescents with achondroplasia (born 2000-2019).
- Descriptive statistical analysis of collected data.
Main Results:
- 108 participants (58 male, 50 female) were included.
- High prevalence of complications: craniocervical stenosis (48%), hearing impairment (61.1%), sleep-disordered breathing (40.7%), lower-limb malalignment (42.6%).
- Two deaths occurred during the study period.
Conclusions:
- This study provides current rates of medical complications in Australian children with achondroplasia.
- Findings can guide clinical surveillance and management strategies.
- Essential prognostic information for families of affected children.
Aim:
To determine the rates of medical investigations, complications, interventions, and outcomes in children with achondroplasia.
Method:
Children and adolescents with achondroplasia born between 2000 and 2019, aged between 0 and 18 years of age, and seen at The Children's Hospital at Westmead skeletal dysplasia clinic were included. Data were collected retrospectively from clinical records. Standard descriptive statistics were used for analysis.
Results:
The study included 108 participants, 58 males and 50 females. Ninety-nine participants (91.7%) entered the study at birth. The other nine (8.3%) participants entered the study after birth (mean age = 2 years 4 months, SD = 1 year 8 months). The median age of exit from the study was 8 years 8 months (IQR = 8 years 9 months) with a median follow-up of 8 years 8 months (IQR = 8 years 9 months). Fifty-two (48%) participants presented with craniocervical stenosis, 15 (13.9%) with hydrocephalus, 66 (61.1%) with hearing impairment, 44 (40.7%) with sleep-disordered breathing, 46 (42.6%) with lower-limb malalignment, 24 (22.2%) with thoracolumbar kyphosis, 10 (9.3%) with symptomatic spinal stenosis, 12 (11.1%) with obesity, and 16 (14.8%) who had at least one admission for respiratory illness. Two children died during the study period.
Interpretation:
We report contemporary rates of medical complications in an Australian population of children with achondroplasia. Recommendations for surveillance in clinical practice are discussed. This information will help guide clinicians with their expectant management of achondroplasia and provide prognostic information to the families of children with achondroplasia.
Related Concept Videos
01:09Changes in the Appendicular Skeleton with Age
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
01:29Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
01:28Disorders of the Skeletal Muscle
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
01:24Flail Chest-I
Flail chest is a severe and potentially life-threatening condition characterized by the fracture of three or more adjacent ribs in multiple places. It is most commonly caused by direct impacts and trauma, such as motor vehicle accidents or injuries from a steering wheel impact. It can also occur due to falls in elderly individuals with osteoporosis, or assaults involving sharp objects.
Pathophysiology
The pathophysiology of flail chest is complex, involving fractures of...
01:25Chronic Obstructive Pulmonary Disease-III: Symptoms and Complications.
Symptoms of COPD can be classified as primary or systemic. Primary symptoms relate to reduced airflow, while systemic or extrapulmonary symptoms relate to COPD's broader impact on the body.
Primary Symptoms of COPD:
01:23Rheumatic Heart Disease I: Introduction