Mardini M K, Ghandour M, Sakati N A, Nyhan W L
Clin Genet. 1978 Nov;14(5):247-50. doi: 10.1111/j.1399-0004.1978.tb02141.x.
An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, microcephaly, and mental retardation is presented as an example of the Johanson-Blizzard syndrome. The infant failed to thrive and had evidence of malabsorption. He died at 4 months of age. The occurrence of extensive consanguinity in his family and the occurrence of two other members of the kindred with a similar syndrome indicate that this disorder is transmitted by an autosomal recessive gene.
一名患有鼻翼发育不全、肛门闭锁、囟门处局限性皮肤发育不全、小头畸形和智力发育迟缓的婴儿被作为约翰森-布莱兹德综合征的一个例子呈现。该婴儿生长发育不良并有吸收不良的证据。他在4个月大时死亡。其家族中广泛近亲结婚的情况以及该家族中另外两名患有类似综合征的成员表明，这种疾病是由常染色体隐性基因传递的。
