Please do not copy. These anomalies are predominantly hypoplasia and shortening but these bones can also be malformed or fused. Aside from the mesomelic dysplasia most other anomalies are skeletal and the most striking is micrognathia. Disproportionate short stature.
Some forms have normal intellectual capacity.
Mesomelic shortening of the upper extremities with spur formation and cutaneous dimpling. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism. The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.