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What are the tests for achondroplasia?

6 doctors weighed in
Dr. Ahmad M Hadied
Orthopedic Surgery
5 doctors agree

In brief: Dwarfism.

It occurs as a sporadic mutation in approximately 75% of cases (associated with advanced paternal age) or may be inherited as an autosomal dominant genetic disorder. Achondroplasia can be detected before birth by the use of prenatal ultrasound.
A dna test can be performed before birth to detect homozygosity, wherein two copies of the mutant gene are inherited. Also we could use radiology findings.

In brief: Dwarfism.

It occurs as a sporadic mutation in approximately 75% of cases (associated with advanced paternal age) or may be inherited as an autosomal dominant genetic disorder. Achondroplasia can be detected before birth by the use of prenatal ultrasound.
A dna test can be performed before birth to detect homozygosity, wherein two copies of the mutant gene are inherited. Also we could use radiology findings.
Dr. Ahmad M Hadied
Dr. Ahmad M Hadied
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