ABSTRACT
Skeletal dysplasias are a group of heterogeneous and complex, largely genetic disorders affecting bone growth and development and resulting in abnormalities of bone size, shape and density. Despite recent advances in imaging modalities and molecular genetics, accurate in utero diagnosis may be difficult. Some of the factors that make diagnosis difficult are:
the large number of conditions (there are more than 450 skeletal dysplasias and many more syndromes with significant skeletal involvement)
phenotypic variability within an individual condition
overlapping features between conditions
in utero evolution of changes
lack of a systematic approach.
