Arthrogryposis as a congenital malformation that refers to the fixed flexion of one or more joints as a result of stiffness or limited movements of multiple joints, change of posture and limb function due to permanent contracture of joints and wasting of muscles that usually occur at early stage of gestation. This report describes congenital arthrogryposis associated with musculoskeletal defect...

Yurie Okabe-Oho, Hiroki Murakami, Suguru Oho and Masaki Sasai 1,3,4 Department of Computational Science and Engineering, Nagoya University, Nagoya 464-8603, Japan, Department of Environmental Engineering and Architecture, Nagoya University, Nagoya 464-8601, Japan, Department of Applied Physics, Nagoya University, Nagoya 464-8603, Japan, and School of Computational Sciences, Korea Institute for ...

arthrogryposis as a congenital malformation that refers to the fixed flexion of one or more joints as a result of stiffness or limited movements of multiple joints, change of posture and limb function due to permanent contracture of joints and wasting of muscles that usually occur at early stage of gestation. this report describes congenital arthrogryposis associated with musculoskeletal defect...

BACKGROUND A previous study reported a high prevalence of spinal epidural lipomatosis (SEL) in patients with Scheuermann kyphosis (SK) and suggested that it may play a role in the pathogenesis of this disease. According to our observation, however, SEL occurs in other spinal kyphotic deformities as well. The aim of this study was to test the hypothesis that SEL commonly occurs in patients with ...

Chromosome region 85A contains at least 12 genetic complementation groups, including the genes dhod, pink and hunchback. In order to better understand the organization of this chromosomal segment and to permit molecular studies of these genes, we have carried out a genetic analysis coupled with a chromosome walk to isolate the DNA containing these genes. Complementation tests with chromosomal d...

During embryonic development, a spatial pattern is formed in which proportions are established precisely. As an early pattern formation step in Drosophila embryos, an anterior-posterior gradient of Bicoid (Bcd) induces hunchback (hb) expression (Nature 337 (1989) 138; Nature 332 (1988) 281). In contrast to the Bcd gradient, the Hb profile includes information about the scale of the embryo. Furt...

Solitary osteochondromas, which are the most common benign bone tumors of long bones, are rarely found in the vertebral column. A 16-year-old female patient presented with a hard palpable mass at lower lumbar region like a congenital deformity. Plain radiography illustrated a well-defined solid mass arising from the posterior elements of the L3 and ruled out any congenital anomalies. A computed...

The gap gene hunchback in Drosophila acts during syncytial blastoderm stage via a short-range gradient and concentration-dependent activation or repression of target genes. Orthologues of hunchback can be easily found in other insects, but it has been unclear how well its functions are conserved. The segmentation process in most insect embryos occurs under cellular conditions, which should not ...

Boundaries of Ultrabithorax expression are mediated by long-range repression acting through the PBX or ABX control region. We show here that either of these control regions confers an early band of beta-galactosidase expression which is restricted along the anteroposterior axis of the blastoderm embryo. This band is succeeded by a stripe pattern with very similar anteroposterior limits. Dissect...

In short and intermediate germ insects, only the anterior segments are specified during the blastoderm stage, leaving the posterior segments to be specified later, during embryogenesis, which differs from the segmentation process in Drosophila, a long germ insect. To elucidate the segmentation mechanisms of short and intermediate germ insects, we have investigated the orthologs of the Drosophil...