Abruzzo M A, Erickson R P
Department of Biological Sciences, California State University, Chico 95929-0515.
Am J Med Genet. 1989 Nov;34(3):397-400. doi: 10.1002/ajmg.1320340315.
Previously, we reported on a family with a new syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. This family has been cited in several reports as an example of familial CHARGE syndrome. We do not think that the patients in this family have the Charge syndrome or association. Therefore, we decided to do a follow-up study on this family to assess the subsequent development of the patients and to determine if they have the CHARGE syndrome. We conclude that our patients do not have familial CHARGE syndrome.
此前，我们报道了一个患有腭裂、缺损、尿道下裂、耳聋、身材矮小和桡骨融合新综合征的家族。这个家族在几份报告中被引为例证性家族性CHARGE综合征。我们认为这个家族的患者并不患有CHARGE综合征或相关疾病。因此，我们决定对这个家族进行随访研究，以评估患者的后续发育情况，并确定他们是否患有CHARGE综合征。我们得出结论，我们的患者并不患有家族性CHARGE综合征。
