How is achondroplasia diagnosed?
The diagnosis of achondroplasia can be based on the typical physical features, the hallmarks of achondroplasia, evident at birth. Characteristic features are also seen by radiology (X-ray), ultrasound, and other imaging techniques. With ultrasound, the diagnosis can sometimes be strongly suspected before birth. The molecular diagnosis of achondroplasia before birth is possible if there is suspicion of the diagnosis or an increased risk (such as when a parent is affected by achondroplasia). In families in which both parents have achondroplasia, prenatal diagnosis may be particularly useful, the aim being to distinguish fatal homozygous achondroplasia from heterozygous achondroplasia (with one copy of the achondroplasia gene) from normal. Diagnosis before birth is accomplished by examining cells obtained by chorionic villus sampling (CVS) or amniocentesis. What can be done for patients with achondroplasia? Children and adults with achondroplasia can lead normal lives provided they receiv
Related Questions
- We are parents of a newborn child who has been diagnosed with achondroplasia, and our pediatrician doesn know anything about it. What should we do?
- We e the parents of a newborn child whos been diagnosed with achondroplasia, and our pediatrician doesn know anything about it. What should we do?
- How is achondroplasia diagnosed?
