1/6. 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 = 1keywords = vessel (Clic here for more details about this article) |
2/6. Subtotal splenectomy for treatment of retarted growth and sexual development associated with splenomegaly.This communication presents a new alternative for the treatment of retarded growth and sexual development associated with spleno- megaly: subtotal splenectomy, preserving the upper splenic pole supplied only by the splenogastric vessels, to avoid adverse effects of total splenectomy. We performed this procedure associated with central splenorenal shunt or portal-variceal disconnection in 3 teenagers with portal hypertension due to Schistosomia-sis Mansoni, complicated by variceal bleedings. All of them presented retarded growth and sexual development. All patients had uneventful postoperative follow-up, and normal growth and sexual development after the surgery. Subtotal splenectomy should be considered for treatment dwarfism associated with splenomegaly.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/6. Russell silver syndrome and tethered spinal cord.CASE REPORT: We report a 20-year-old male with Russell silver syndrome and tethered cord syndrome. This patient presented with non-painful scoliosis. MRI demonstrated a conus medullaris at the superior aspect of the L3 vertebral body. Axial images demonstrated no fat within the filum terminale. There was a horizontal sacrum. The patient had no cutaneous stigmata over the lumbosacral spine indicative of occult spinal dysraphism. At operation, the filum terminale was found to be quite large at approximately 5.0 mm in diameter. Grossly, the filum was found to have several large vessels both anterior and posterior to it. Following transection of the filum the distal cord was noted to withdraw cephalad indicating caudal traction. DISCUSSION: We believe this to be the first report of Russell silver syndrome in conjunction with tethered cord syndrome. Following additional reports, Russell silver syndrome may be added to the differential diagnoses for tethered cord syndrome.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/6. Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies.We report on a 2 9/12-year-old boy with disproportionate short stature, microcephaly, subtle craniofacial dysmorphisms, and generalized skeletal dysplasia, who developed a left hemiparesis. brain neuroimaging disclosed a complex cerebral vascular anomaly (CVA) with stenosis of the right anterior cerebral artery and telangiectatic collateral vessels supplying the cerebral cortex, consistent with moyamoya disease. Based on clinical and skeletal features, a diagnosis of Majewski osteodysplastic primordial dwarfism type II (MOPD II) was established. review of 16 published patients with CVA affected by either Seckel syndrome or MOPD II suggested that CVA is preferentially associated to the latter subtype affecting about 1/4 of the patients.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
5/6. The cockayne syndrome: an evaluation of hypertension and studies of renal pathology.Three children with renal disease, hypertension, and the cockayne syndrome were evaluated. All patients had severe hypertension; peripheral vein renin was elevated in two patients. Renal biopsy specimens from two patients were studied by light microscopy, electron microscopy, and immunofluoresence. Immunohistologic studies demonstrated deposits of immunoglobulin and complement in the vessels and glomeruli of the first patient; deposits of immunoglobulin and complement were seen in the glomeruli of the third patient. Also electron-dense deposits were seen in the glomerular basement membrane of the third patient. Circulating immune complexes were detected by the Raji cell and Clq binding techniques in this child as well. Both hypertension and renal disease are frequent complications of the cockayne syndrome.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
6/6. coronary artery bypass grafting in an achondroplastic dwarf.To our knowledge, coronary bypass for complications of coronary artery disease in achondroplasia has not previously been described. achondroplasia, in and of itself, is not a contraindication to coronary bypass. Although the anatomic reserve of saphenous vein is less in achondroplastic dwarfs than in people of normal stature, that vessel and the internal mammary artery can be harvested in routine fashion. A 60-year-old woman with several risk factors for coronary artery disease underwent successful bypass surgery, which included the use of both a saphenous vein and the left internal mammary artery.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |