Abstract
Campomelic dysplasia is a rare congenital skeletal disorder. It is an autosomal dominant condition caused by mutation of the SOX9 gene on chromosome 17. Many different body systems can be harmfully affected, resulting in a variety of skeletal and extraskeletal anomalies attributable to the gene mutation. The most evident characteristics of the condition are symmetrical shortening and anterior bowing of the femurs and tibias. For most affected fetuses, death occurs in the fetal period or in the neonatal period shortly after birth. The primary cause of death is respiratory distress due to many possible factors such as micrognathia and hypoplastic chest cavity, lungs, or airways. Fetal sonography is fundamental in the detection of related defects and the ultimate diagnosis of the disorder.
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