In utero sonographic diagnosis is possible when characteristic features such as bilateral bowed femurs and tibia, clubbed feet, prominent curvature of the neck, a bell-shaped chest, pelvic dilation, and/or an undersized jaw are apparent. Radiographic techniques are generally used only postnatally and also rely on prototypical physical characteristics. However, bent bones are an unspecific sign and most fetuses with bent bones will have conditions other than<unk>  Screening Genetic screening can be done by comparative genomic hybridization (CGH) studies using DNA microarrays. and by PCR and sequencing of the entire SOX9 gene. Many different translocation breakpoints and related chromosomal aberrations in patients with<unk>  have been identified.
Campomelic dysplasia
Acromesomelic dysplasia
Langer mesomelic dysplasia
Hereditary coproporphyria
Mondini dysplasia
Imperforate anus
Mandibuloacral dysplasia
Thanatophoric dysplasia