PubMed · 3533601
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J de Grouchy, C Turleau. 1986-10-15. Microcytogenetics 1984.. https://doi.org/10.1007/bf01941282
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CONTEXT: Beckwith-Wiedemann syndrome is a complex and heterogeneous overgrowth syndrome with genetic and epigenetic alterations, involving genomic imprinting and cancer predisposition. Isolated hemihyperplasia is of unknown cause, and it may represent a partial or incomplete expression of Beckwith-Wiedemann syndrome. OBJECTIVES: A clinical and molecular review and proposal of the use of an experimental protocol to provide a practical approach for the physician. DATA SYNTHESIS: This review demonstrates the genetic and epigenetic mechanisms involved in the Beckwith-Wiedemann syndrome and isolated hemihyperplasia, and the candidate genes. To our knowledge, this is the first Brazilian protocol for research into these disorders. The results have been used at the Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, to elucidate the basis of Beckwith-Wiedemann syndrome and isolated hemihyperplasia, and have been applied at the Hospital Universitário of the Faculdade de Medicina. CONCLUSIONS: Elucidation of the etiological mechanisms and use of a laboratory protocol to detect alterations in these disorders may be useful for guiding the management of such patients and genetic counseling of the families.
CONTEXT: During the past two decades, assisted reproductive technologies (ARTs) have revolutionised the treatment of infertility. ARTs now account for between 1% and 3% of annual births in many western countries and in-vitro fertilisation (IVF) services are growing worldwide. In general, the incidence of abnormalities at birth is reassuringly low and children develop normally. Nevertheless, it is important to monitor the safety of ARTs as clinical protocols evolve and new technologies emerge. STARTING POINT: Three recent studies all report an unexpectedly high incidence of Beckwith-Wiedemann syndrome (BWS) in children conceived with ARTs. Six of 149 cases were reported from a British BWS registry (J Med Genet 2003; 40: 62-64); the same numbers were recorded in a French registry (Am J Hum Genet 2003; 72: 1338-41), and a further seven children have been reported in the USA (Am J Hum Genet 2003; 72: 156-60). These frequencies are extraordinarily high for such a rare congenital condition and such findings are reminiscent of reports of sporadic cases of the imprinting disorder, Angelman syndrome, which has also been linked with ARTs. WHERE NEXT? Continuing surveillance of children conceived with ARTs is needed, including monitoring birth defects, development, and cancer. Studies will need to be prospective and multicentre, and should include molecular characterisation of epigenetic abnormalities, including the methylation status of imprinting control regions within imprinted gene clusters.
Both Beckwith-Wiedemann syndrome (BWS) and hemihypertrophy (HH) have been recognized to be overgrowth syndromes associated with an increased risk of cancer. We report an infant with hepatoblastoma associated with both BWS and HH in whom high serum alpha-fetoprotein (AFP) levels persisted even after complete tumor resection with no tumor recurrence. This phenomenon might be partly due to the nature of the proliferative disease. It is important to recognize that in some infants with BWS prolonged high serum AFP levels mimic the existence of a tumor, and that treatment should be based not only on AFP measurement, but also on repeated radiologic imaging.