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Solitary maxillary central incisor with growth hormone deficiency
No full textThe case of a prepubertal girl with growth hormone deficiency and a solitary maxillary central incisor is described. The association of these 2 abnormalities can be explained by a single embryological defect
Cytogenetic studies in acute leucemia. Prognostic implications of chromosome imbalance.
No full textConsistent cytogenetic abnormalities have been detected in the bone marrow cells of 19 out of 33 patients (57.57%) with a recent diagnosis of acute leukaemia. Chromosome imbalances were apparently non-random, chromosomes 8, 17, 20 and 21 being more frequently involved. The median survival in the patients' group with abnormal metaphases was 55 vs. 210 days in patients with only normal metaphases. In the former group complete remission was obtained in 2 of 3 ALL patients and in 4 of 16 ANLL patients. Major karytypic abnormalities were consistently found in 5 subjects with EL. Peripheral blood culture lymphocytes showed a 9qh polymorphism in 2 of 35 patients and sporadic or consistent chromosome abnormalities in 6
Diagnostic criteria of William-Beuren syndrome. Reports of 5 cases | [CRITERI DIAGNOSTICI NELLA SINDROME DI WILLIAM-BEUREN. PRESENTAZIONE DI 5 CASI]
No full textThe William-Beuren syndrome is a relatively rare disease, classically reported as an association of idiopathic hypercalcemia, peculiar facies defined as 'elfin facies', growth and mental retardation of variable degree and supravalvular aortic stenosis. On the basis of 5 cases of William-Beuren syndrome the authors reviewed some extensive studies and believe that the most consistent features requested for correct diagnosis of this syndrome should be researched in four groups of symptoms: variable mental and growth retardation, peculiar facies and congenital heart defects
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