Summary
Atelosteogenesis II is a perinatal dysplasia characterised by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Diagnosis can be established by performing a full skeletal survey. Patients are stillborn or die soon after birth. The disorder is infrequently reported. It shows autosomal recessive inheritance. Atelosteogenesis II results from mutations in the diastrophic dysplasia sulfate transporter gene (DTDST) and is pathogenetically related to the phenotypically milder diastrophic dysplasia and phenotypically more severe achondrogenesis type IB. DNA molecular prenatal diagnosis on first trimester chorionic villus samples is feasible in cases where the DTDST gene mutation has been identified. Authors: Profs. D. Sillence and K. Kozlowski (November 2004)*.
