A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.

Boomerang dysplasia is a rare lethal osteochondrodysplasia characterized by disorganized mineralization of the skeleton, leading to complete nonossification of some limb bones and vertebral elements, and a boomerang-like aspect to some of the long tubular bones. Like many short-limbed skeletal dysplasias with accompanying thoracic hypoplasia, the potential lethality of the phenotype can be difficult to ascertain prenatally. We report a case of boomerang dysplasia prenatally diagnosed by use of ultrasonography and 3D-CT imaging, and identified a novel mutation in the gene encoding the cytoskeletal protein filamin B (FLNB) postmortem.

Hydration process of Na2- in small water clusters: photoelectron spectroscopy and theoretical study of Na2- (H2O)n.

Photoelectron spectroscopy (PES) of Na2- (H2O)n (n < or = 6) was investigated to examine the solvation of sodium aggregates in small water clusters. The PES bands for the transitions from the anion to the neutral ground and first excited states derived from Na2 (1(1)Sigmag+) and Na2 (1(3)Sigmau+) shifted gradually to the blue, and those to the higher-excited states correlated to the 3(2)S + 3(2)P asymptote dropped down rapidly to the red and almost degenerated on the 1(3)Sigmau+-type band at n = 4. Quantum chemical calculations for n up to 3 showed that the spectra can be ascribed to structures where one of the Na atoms is selectively hydrated.