一种伴有鳃发育异常、智力缺陷、畸形足和腹股沟疝的综合征的家族性发病情况。

Lambert J C, Ayraud N, Martin J, Mariani R, Ferrari M, Donzeau M

J Med Genet. 1982 Jun;19(3):214-5. doi: 10.1136/jmg.19.3.214.

A distinct probably autosomal recessive disorder was ascertained in a boy and his sister. The common features were signs of abnormal development of the first and second branchial arches, mental deficiency, club feet, and inguinal herniae. In addition the boy had hypospadias and the girl a ventricular septal defect.

在一个男孩及其妹妹身上确诊了一种明显的可能为常染色体隐性遗传的疾病。其共同特征为第一和第二鳃弓发育异常的体征、智力缺陷、畸形足和腹股沟疝。此外，男孩患有尿道下裂，女孩患有室间隔缺损。