1/137. Increased sister chromatid exchange in bone marrow and blood cells from Bloom's syndrome.Bone-marrow cells from a patient with Bloom's syndrome cultured for 48 h in the presence of BudR exhibited a striking increase in the number of sister chromatid exchanges (SCEs) in comparison to that in the marrow cells of a patient with treated polycythemia vera (PV). Thus, it appears that an increased incidence of SCE in Bloom's syndrome occurs in various differentiated types of cells, not just blood lymphocytes, and constitutes the syndrome's most characteristic cytogenetic feature. In contrast, the incidence of SCE was not increased in marrow cells and lymphocytes of the particular PV patient studied here, whose cells did exhibit increased numbers of chromatid and chromosome gaps and breaks, presumably as result of the patient's earlier treatment. An increased frequency of SCE was demonstrated in Bloom's syndrome lymphocytes using both a technique based on BudR incorporation and one based on labeling with tritated deoxycytidine. This observation constitutes evidence against the increase of SCE being due to an unusual reaction to BudR. By conventional cytogenetic techniques, chromosome instability, including chromatid and chromosome breaks, but no homologous chromatid interchanges were also recognized in Bloom's syndrome bone-marrow cells incubated in vitro (without BudR) for either 1.k or 16 h. This observation points to the existence of chromosome instability in vivo.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
2/137. Mesomelic dysplasia with periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures.We report a boy with a new form of mesomelic dysplasia characterised by short stature, multifocal periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures with minimal trauma. electrophoresis of fibroblast collagens detected defects in type III and type V collagen. CONCLUSION: Bone dysplasias presenting with osteopenia, abnormal trabecular pattern, bone fragility, and periosteal thickening suggest a collagenopathy. A possible collagen defect requires biochemical investigations.- - - - - - - - - - ranking = 0.2keywords = bone (Clic here for more details about this article) |
3/137. Distraction osteogenesis in silver Russell syndrome to expand the mandible.Distraction osteogenesis is a method commonly used to activate bone regeneration in nonunions and osseous defects and for lengthening procedures of tubular bones. This technique involves the sectioning of a bone and the subsequent deliberate, controlled movement of the opposing sectioned edges to lengthen, widen, or reposition a bone, or all three. In this report, a patient with silver Russell syndrome and severe mandibular hypoplasia was treated by means of distraction osteogenesis of the midsymphysis to widen the mandible in concert with sagittal-ramus osteotomies to lengthen the mandible. This treatment created significantly increased arch length in the mandible, which was necessary to facilitate the patient's orthodontic treatment. We believe this is the first reported case of distraction osteogenesis to widen the mandible with the use of a tooth-borne appliance.- - - - - - - - - - ranking = 0.8keywords = bone (Clic here for more details about this article) |
4/137. Spondylocarpotarsal synostosis with ocular findings.We report on three sibs presenting with spondylocarpotarsal synostosis, short-trunk dwarfism of postnatal onset, scoliosis, unsegmented thoracic vertebrae with unilateral bar, and carpal bone fusion. Tarsal bone fusion and dental abnormalities were noted in some of them, indicating pleiotropy and intrafamilial variability. Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this condition.- - - - - - - - - - ranking = 0.4keywords = bone (Clic here for more details about this article) |
5/137. Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy.Clinical analysis and genetic investigations of new cases of Wolcott-Rallison syndrome are needed to evaluate the role of the gene(s) directly or indirectly implicated in pancreas development and in the aetiology of the syndrome.- - - - - - - - - - ranking = 1.1498096461863keywords = endocrine (Clic here for more details about this article) |
6/137. Bilateral total hip replacement in pseudoachondroplasia.Pseudoachondroplasia is an inherited skeletal dysplasia with short-limbed dwarfism and early onset of osteoarthritis. A 29-year-old pseudoachondroplastic woman presented with progressively painful hips secondary to severe osteoarthritis of both joints, so that total joint replacements were necessary to restore her mobility and quality of life. The implants inserted had to be specifically manufactured in accordance with the individual geometry and reduced bone size. In addition, the implants mechanical resistance to dynamic loading conditions had to be tested prior to total hip replacement surgery.- - - - - - - - - - ranking = 0.2keywords = bone (Clic here for more details about this article) |
7/137. 3-M syndrome: a prenatal ultrasonographic diagnosis.The ultrasonographic imaging of a fetus affected by 3-M syndrome is described. This is a primordial dwarfism with low birthweight, short stature, facial dysmorphism and normal mental development. The biparietal diameter and head circumference were in accordance with the gestational age at 18 weeks. The femur and tibia lengths were on the fifth centile and the radius, ulna and humerus lengths were below the fifth centile. A second scan at 22 weeks showed slowing of growth of all long bones, with the femur, tibia, fibula, humerus, radius and ulna lengths further below the fifth centile. The pregnancy was terminated and postmortem examination confirmed the prenatal diagnosis. The differential diagnosis of skeletal dysplasias characterized by a slow growth of long bones is discussed and the conclusion reached that the detection of shortened long bones (below the fifth centile) is the only ultrasonographic finding of 3-M syndrome.- - - - - - - - - - ranking = 0.6keywords = bone (Clic here for more details about this article) |
8/137. Micromelic dwarfism--humerus, femur and tibia type.We report a baby with severe micromelic dwarfism characterized by severe shortening of the humeri, femora and tibiae with hypoplastic radii, ulnae and fibulae which are of normal shape. We suggest that this case is similar to the case reported by Baxova et al [(1993), Paediatr Radiol 23:446-449] confirming the identity of this new bone dysplasia.- - - - - - - - - - ranking = 0.2keywords = bone (Clic here for more details about this article) |
9/137. diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome.Pancreatic exocrine insufficiency in Johanson-Blizzard syndrome (JBS) is well described but only two previous patient reports document pancreatic endocrine insufficiency manifested as diabetes mellitus, and each patient required only a modest dose of insulin to control hyperglycemia. We report a patient with JBS and new-onset diabetes mellitus with profound insulin resistance, with no clinical or laboratory evidence of pancreatic exocrine insufficiency.- - - - - - - - - - ranking = 0.28745241154656keywords = endocrine (Clic here for more details about this article) |
10/137. Pyknodysostosis--a report of two cases with a brief review of the literature.Pyknodysostosis is a rare sclerosing bone disorder that has an autosomal dominant trait. It is characterized by short stature, brachycephaly, short and stubby fingers, open cranial sutures and fontanelle, and diffuse osteosclerosis, where multiple fractures of long bones and osteomyelitis of the jaw are frequent complications. We present a report of two cases of pyknodysostosis with evidence of long bone fractures and chronic suppurative osteomyelitis of the jaws in one of the cases. Some of the specific oral and radiological findings that are consistent with pyknodysostosis are reported, along with a brief review of the literature.- - - - - - - - - - ranking = 0.6keywords = bone (Clic here for more details about this article) |
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