The Importance of Antenatal Ultrasound Screening for Congenital Osteochondrodysplasia – Two Case Reports

Abstract

Osteochondrodysplasias comprise a large, genetically heterogeneous group of disorders characterized by abnormalities of cartilage and bone growth. They are often associated with abnormalities in other organ systems. They are classified as lethal or non-lethal skeletal dysplasias. Thanatophoric dysplasia is the most common form of lethal skeletal dysplasia with an incidence of 0.69 per 10.000 births. Heterozygous achondroplasia is the most common non-lethal dysplasia with an incidence of 0.15 per 10.000 births. We will present two cases of skeletal dysplasia. The first case is the case of lethal osteochondrodysplasia in the fetus of a 41-year-old multiparous woman, who came to our hospital in active preterm labor, in the 33 th week of uncontrolled pregnancy. The second case is the case of non-lethal osteochondrodysplasia in the fetus of a 31-year-old multiparous woman. The fetal short femur length was detected in the 30 th week of pregnancy.