Tolmie J L, Coutts N, Drainer I K
Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow.
J Med Genet. 1987 Nov;24(11):688-91. doi: 10.1136/jmg.24.11.688.
Five children from two families presented to a regional neonatal surgical unit between 1959 and 1984 with congenital anal anomalies and other malformations resulting from an autosomal dominant inherited condition, the Opitz G syndrome. This and other Mendelian causes of congenital anal malformations are briefly discussed in view of their importance for genetic counselling.
1959年至1984年间，两个家庭的五名儿童因常染色体显性遗传病（Opitz G综合征）导致先天性肛门畸形和其他畸形，被送往一家地区新生儿外科病房。鉴于其对遗传咨询的重要性，本文简要讨论了这种疾病以及先天性肛门畸形的其他孟德尔病因。
