The complete genome sequence of beak and feather disease virus (BFDV) from a wild Australian Mallee ringneck parrot (Barnardius zonarius barnardi) was characterized. The genome consists of 1,995 nucleotides and encodes two major proteins in opposing directions. This is the first evidence of BFDV infectivity and the first complete genome sequence for this novel host.

The effect of removal of the lower beak on the development of the interorbital septumprenasal process (ISPP) complex was studied in chick embryos. In normal development the angle between the ventral contour of the interorbital septum and the long axis of the prenasal process increases. At the same time the angle between the ventral contour of the interorbital septum and the basal plate increase...

K yphomelic dysplasia has been described as a generalised skeletal dysplasia characterised by a disproportionate growth, bowing of long bones, mild facial dysmorphia, and normal intelligence, with radiologically flattened vertebrae, short ribs, and metaphyseal flaring. Twenty-one cases have been reported in the literature. However the diagnosis in several cases from the literature has been disp...

Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and characterized by short trunk dwarfism, "crab-like" rib cage, with ribs and vertebral defects; it is not uncommon in Puerto Ricans. Many patients die in early infancy due to respiratory compromise associated to lung restriction and the reported cases emphasize mostly the skeletal malformations associated to the syndrome. We repo...

Majewski osteodysplastic primordial dwarfism type II (MOPD II) is an unusual autosomal recessive inherited form of primordial dwarfism, which is characterized by a small head diameter at birth, but which also progresses to severe microcephaly, progressive bony dysplasia, and characteristic facies and personality. This report presents a case of a five-year-old girl with MOPD II syndrome. The pat...

K yphomelic dysplasia has been described as a generalised skeletal dysplasia characterised by a disproportionate growth, bowing of long bones, mild facial dysmorphia, and normal intelligence, with radiologically flattened vertebrae, short ribs, and metaphyseal flaring. Twenty-one cases have been reported in the literature. However the diagnosis in several cases from the literature has been disp...

Five disproportionate, short-limbed, short-trunked (dwarf) Great Pyrenees pups were examined. The mode of inheritance was compatible with a simple autosomal recessive trait, and skeletal radiography revealed flaring of the metaphyses of all long bones and the costochondral junctions of the ribs. Vertebral bodies were poorly ossified and short, and had a beak-like extension on the caudal metaphy...

Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved positions of the RNU4ATAC small nuclear RNA gene, a minor spliceosome component that is essential...

BACKGROUND Posterior cortical atrophy is a clinical syndrome that is characterized by the progressive loss of visuospatial integration and is associated with neurodegenerative conditions. CASE REPORT We describe a 60-year-old female with simultanagnosia, oculomotor apraxia, and optic ataxia for which she received an initial clinical diagnosis of posterior cortical atrophy. Three years later, ...

Ellis-van Creveld (EvC) syndrome (OMIM 225500) is an autosomal recessive disease characterized with chondrodysplastic dwarfism in association with abnormalities in oral cavity. Ciliary proteins EVC and EVC2 have been identified as causative genes and they play an important role on Hedgehog signal transduction. We have also identified a causative gene LIMBIN for bovine chondrodysplastic dwarfism...