ABSTRACT
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. Findings that aided the radiological diagnosis of this condition in utero included absent ossification of two out of three long bones in each limb and elements of the vertebrae and a boomerang-like shape to the ulnae. The identified mutation is the third described for this disorder and is predicted to lead to amino acid substitution in the actin-binding domain of the filamin B molecule.
Subject(s)
Contractile Proteins/genetics , Dwarfism/embryology , Dwarfism/genetics , Microfilament Proteins/genetics , Mutation , Osteochondrodysplasias/embryology , Osteochondrodysplasias/genetics , Adult , Amino Acid Substitution , Contractile Proteins/metabolism , Dwarfism/diagnostic imaging , Facies , Fatal Outcome , Female , Filamins , Humans , Imaging, Three-Dimensional , Infant, Newborn , Male , Microfilament Proteins/metabolism , Osteochondrodysplasias/diagnostic imaging , Pregnancy , Pregnancy Trimester, Third , Protein Isoforms/genetics , Protein Isoforms/metabolism , Respiratory Insufficiency/etiology , Term Birth , Tomography, X-Ray Computed , Ultrasonography, PrenatalABSTRACT
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. From the electron distributions, it is found that the Na- -Na+(H2O)n- -type electronic state grows with increasing cluster size, which can be regarded as a sign of the solvation of Na2- with ionization of the hydrated Na.
