Lazjuk G I, Lurie I W, Ostrowskaja T I, Cherstvoy E D, Kirillova I A, Nedzved M K, Usoev S S
Am J Med Genet. 1979;3(3):261-7. doi: 10.1002/ajmg.1320030304.
We report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, syndactyly of toes and fingers, hypoplastic genitalia, and numerous structural changes of the brain and eyes. Similar cases have been reported by Neu et al [1], Laxova et al [2] and Povysilova et al [3]. The above-mentioned syndrome complex is a distinct genetic syndrome, for which we propose the eponym "the Neu-Laxova syndrome." Affected patients resemble each other strikingly and there is usually no doubt about the diagnosis. The Neu-Laxova syndrome is apparently transmitted as an autosomal recessive trait.
我们报告了一名死产女婴,她患有小头畸形、无脑回畸形、严重皮下水肿、肌肉萎缩、屈曲指、并指(趾)、生殖器发育不全以及脑和眼的众多结构改变等复杂综合征。Neu等人[1]、Laxova等人[2]和Povysilova等人[3]曾报告过类似病例。上述综合征复合体是一种独特的遗传综合征,我们提议将其命名为“Neu-Laxova综合征”。受影响的患者彼此极为相似,诊断通常毫无疑问。Neu-Laxova综合征显然以常染色体隐性性状遗传。