Laziuk G I, Ostrovskaia T I, Lur'e I V, Kirillova I A, Kravtsova G I
Arkh Patol. 1979;41(8):40-5.
An analysis of phenotypic manifestations of Wolf-Hirschhorn syndrome from the 60 cases most thoroughly described in the literature and 3 own observations was done. Most characteristic malformations of this syndrome were shown to include coracoid nose and hypertelorism, coloboma of the eyes, hypospadia, aplasia, hypoplasia and polycystosis of the kidneys, dystopia and dysplasia of the cerebellar gyri, shortening of H2 field of the Ammon's horn with imparied orientation of its neurons, sacral sinus, and retarded bone maturation.
对文献中描述最详尽的60例病例以及3例自身观察病例的沃尔夫-赫希霍恩综合征的表型表现进行了分析。结果显示,该综合征最典型的畸形包括喙状鼻和眼距过宽、眼裂、尿道下裂、肾脏发育不全、发育不良和多囊症、小脑回异位和发育异常、海马角H2区缩短及其神经元定向受损、骶窦以及骨骼成熟延迟。