Associated anomalies in cases with achondroplasia
Claude Stoll1, Yves Alembik1, Beatrice Dott1
1Génétique Médicale, Faculté de Médecine, Strasbourg, France.
European Journal of Medical Genetics
|September 23, 2022
Summary
Achondroplasia is frequently linked with congenital anomalies. This study found 14.9% of achondroplasia cases had associated anomalies, highlighting the need for thorough screening in affected individuals.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Medicine
Background:
- Achondroplasia is the most common form of skeletal dysplasia.
- Congenital anomalies associated with achondroplasia have variable reported prevalence.
- Comprehensive data on the spectrum and frequency of these anomalies is lacking.
Purpose of the Study:
- To determine the prevalence of congenital anomalies in achondroplasia.
- To describe the types of anomalies co-occurring with achondroplasia.
- To inform clinical screening protocols for achondroplasia patients.
Main Methods:
- Retrospective analysis of 248 achondroplasia cases (25 from a congenital anomaly registry, 223 from a patient organization).
- Inclusion of all pregnancy outcomes (terminations, stillbirths, live births) from the registry (1979-2007).
- Classification of associated anomalies into chromosomal, non-chromosomal syndromic, and multiple congenital anomalies (MCA).
Main Results:
- The prevalence of achondroplasia was 6.4 per 100,000 births.
- 37 out of 248 (14.9%) achondroplasia cases had associated anomalies.
- Commonly affected systems in MCA cases included urogenital (24.4%), cardiovascular (20.0%), and musculoskeletal (15.5%).
Conclusions:
- A significant proportion of achondroplasia cases present with associated congenital anomalies.
- Associated anomalies span chromosomal, syndromic, and multiple congenital anomaly categories.
- Routine, comprehensive screening for congenital anomalies is crucial for individuals with achondroplasia.
Keywords:
AchondroplasiaCongenital anomaliesCongenital malformationsDwarfismSkeletal dysplasiaSmall statureMore Related Videos
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