Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.
This syndrome is caused by homozygous or compound heterozygous mutation in the LTBP3 gene (602090) on chromosome 11q13.
