[Williams syndrome without cardiovascular abnormalities].
In a patient with facial dysmorphic traits, growth deficiency, mental retardation but without cardiovascular anomalies, detection of hemizygosity at the elastin locus by FISH analysis confirmed diagnosis of Williams Syndrome (WS). To date, cardiovascular pathology in WS is thought to be the result of a localized response of inelastic vessels to haemodynamic stress in fetal life. Patients with deletion at the elastin locus and no cardiovascular defects suggest that genetic aspects other than hemizygosity must be investigated, such as transcriptional regulation of the elastin gene expression. Moreover, a complete characterization of the region commonly deleted in 7q11.23 is needed before excluding other genes as responsible for the cardiovascular defects. Clinical investigations are requested for selecting patients with partial phenotype, various degrees of tissue damage and different evolution at follow-up.
Cincinnati
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Sezione Autonoma di Pediatria, Ospedale E. de Santis, Genzano, Roma.
Genuardi
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Rutiloni
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D002318:Cardiovascular Diseases / Q000175:diagnosis; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D006439:Hemodynamics; D006801:Humans; D008297:Male; D018980:Williams Syndrome / Q000175:diagnosis* / Q000235:genetics