Summary
Atelosteogenesis III (AOIII, incomplete ossification) is a short limb skeletal dysplasia, with dysmorphic facies and diagnostic radiographic findings. Recurrent respiratory insufficiency (tracheobronchomalacia) and/or infections usually result in early death. It is a very infrequently described disorder. Atelosteogenesis III results from heterozygous mutations in the gene encoding filamin B (FLNB). All cases of this autosomal dominant disorder are sporadic. The diagnosis is established after full skeletal survey is performed. Antenatal diagnosis can be achieved by ultrasound. *Authors: Profs. D. Sillence and K. Kozlowski (November 2004)*.
