Cools F, Jaeken J
Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
Am J Med Genet. 1997 Sep 5;71(4):472-4. doi: 10.1002/(sici)1096-8628(19970905)71:4<472::aid-ajmg19>3.0.co;2-d.
We present a child with a remarkable constellation of abnormalities comprising cleft lip and palate, pigmentary retinopathy, hydronephrosis, malrotation of the gut and obstructive liver disease. This patient, together with two other reported cases, seems to represent a new syndrome with some similarities to the Kabuki syndrome.
我们报告一名患有一系列显著异常的儿童，这些异常包括唇腭裂、色素性视网膜病变、肾积水、肠道旋转不良和梗阻性肝病。该患者与其他两例已报告病例似乎代表了一种新的综合征，与歌舞伎综合征有一些相似之处。
