Williams-Beuren syndrome is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. It consists of a variety of hallmark physical features, which include distinctive facial characteristics, cardiac anomalies (of which the most common is supravalvular aortic stenosis), and occasional idiopathic hypercalcemia. The condition also includes a unique cognitive profile, with relative sparing of language and facial recognition skills against a background of mental retardation. This paper reviews the early history and clinical experience with this syndrome, how it unfolds from infancy through adulthood, and how it manifests in different organ systems. Evidence-based recommendations are then offered for the treatment of the specific developmental and medical issues that arise in patients with Williams syndrome.

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In order to improve leukemia-free survival (LFS) without the treatment-related morbidity of allogeneic bone marrow transplantation or multiple prolonged cycles of consolidation chemotherapy, we evaluated the long-term outcome of autologous transplantation of peripheral blood progenitor cells (PBPCs) as postremission therapy in 129 patients aged 18-71 years (median 49 years) with newly diagnosed acute myelogenous leukemia (AML) in first complete remission (CR1). The median follow-up from remission for surviving patients was 62.2 months (range 3.7-127.9 months). A total of 57 patients were alive and leukemia free at the end of the study. The LFS and overall survival 5 years from remission were 40.2% (79.2%) and 41.4% (79.4%), respectively. The median LFS and overall survival are 17.3 and 23.3 months, respectively. Multivariate analysis identified age as the most significant predictor for both LFS and overall survival. Karyotype was also found to be predictive of outcome. Our results show that autologous transplantation of PBPC procured after a single cycle of highdose cytarabine-based consolidation chemotherapy for a population of adult patients with AML in CR1 produces a high likelihood of long-term LFS, offering a state of clinical minimal residual disease for the investigation of future therapeutic approaches.