Campomelic dysplasia is a lethal genetic disease from the group of osteochondrodysplasia, characterized by severe skeletal anomalies and other disorders that often lead to fetal death or the death of a newborn in the first weeks of life. Symptoms of this condition are a strong curvature of the tubular bones of the extremities, the presence of 11 pairs of ribs and bell-shaped deformation of the chest. In some cases, there is an inversion of sex. Diagnosis of Campmeloplastic dysplasia is most often performed on the basis of data from prenatal ultrasound studies, karyotyping and molecular genetic studies, after the birth of the child, radiographic data can be used for confirmation. There is no treatment for this genetic disease.
Campomelic dysplasia (kamposmelic dwarfism) is a genetic disease accompanied by numerous abnormalities of the skeleton and violation of sexual differentiation. Only in recent years, methods of modern genetics have been able to identify a gene whose defects lead to the development of camposmelic dysplasia, and to determine the sequence of pathological processes in this state. The occurrence of pathology is approximately 1 per 150-200 thousand newborns, but some researchers dispute these figures, indicating an increased risk of prenatal death, not taken into account by statistics.
The main role in the definition of camposome dysplasia is played by prenatal diagnostic techniques; ultrasound karyotyping and molecular genetic analysis. By ultrasound methods, this disease can be detected already from the 2nd trimester of child bearing, the leading manifestations will be the curvature of the bones of the limbs, the presence of 11 pairs of ribs and the bell-shaped form of the thorax. Also can be determined the developmental defects of the skull, face, heart and kidneys, hypoplasia of the scapula and vertebral bodies, an increase in the size of the pelvic opening. Based on the data listed prenatal ultrasound can reasonably assume the presence of camposome dysplasia and raise the issue of abortion due to medical conditions.