Skeletal Dysplasias

Skeletal dysplasias, also known as osteochondrodysplasias, are a heterogeneous group of >350 disorders characterized by abnormal growth of cartilage or bone. Half of affected fetuses are stillborn or die within 6 weeks of birth. Some skeletal dysplasias are detected prenatally, whereas others are not detected until after birth or in later childhood. Only 40% of affected fetuses presenting prenatally are correctly identified by ultrasound alone.

The most common types of skeletal dysplasias detected prenatally include achondroplasia, osteogenesis imperfecta, thanatophoric dysplasia, campomelic dysplasia, achondrogenesis types IB and II, and diastrophic dysplasia.

Tabs Content

Last Update: November 2018