First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality.

摘要

Thrombocytopenia-absent radius (TAR) syndrome is a rare condition characterized by hypomegakaryocytic thrombocytopenia and bilateral absence of the radius with presence of both thumbs. Thrombocytopenia is often symptomatic in the neonatal period and improves over time (Hall, 1987). A microdeletion of chromosome Iq21.1 is found in all investigated patients with TAR syndrome (Klopocki et al., 2007). However, the recessive inheritance pattern of TAR syndrome requires an additional causative allele that until recently was unknown. A low-frequency single-nucleotide polymorphism (SNP) in the RBM8A gene is detected as the second causative allele in the origination of TAR syndrome (Albers et al., 2012).