Murphy M B, Greenberg F, Wilson G, Hughes M, DiLiberti J
Department of Pediatrics, Texas Children's Hospital, Houston, Texas 77030.
Am J Med Genet Suppl. 1990;6:97-9. doi: 10.1002/ajmg.1320370617.
Two sets of identical twins with Williams syndrome have been reported previously. We report on 2 additional sets of presumed identical twins with Williams syndrome. All 4 patients had the typical Williams syndrome facial appearance, growth deficiency, and developmental delay. None of the patients had supravalvular aortic stenoses; however, all were diagnosed as having probable distal pulmonary artery stenosis. In the set of twins in which serum calcium was measured, one twin had an elevated serum ionized calcium level. These 2 sets of twins further document the occurrence of Williams syndrome in identical twins. To our knowledge, there are no reported cases of concordance in dizygotic twins. This adds further support to the likelihood that Williams syndrome is a genetic disorder.
此前曾报道过两组患有威廉姆斯综合征的同卵双胞胎。我们报告另外两组推测为同卵双胞胎的威廉姆斯综合征患者。所有4例患者都有典型的威廉姆斯综合征面容、生长发育迟缓。所有患者均无瓣上主动脉狭窄；然而，所有人均被诊断可能患有远端肺动脉狭窄。在检测血清钙的那组双胞胎中，其中一个双胞胎的血清离子钙水平升高。这两组双胞胎进一步证明了同卵双胞胎中威廉姆斯综合征的发生情况。据我们所知，没有双卵双胞胎患同病的报道。这进一步支持了威廉姆斯综合征是一种遗传性疾病的可能性。
