Mendez H M, Paskulin G A, Vallandro C
Am J Med Genet. 1985 Oct;22(2):223-8. doi: 10.1002/ajmg.1320220202.
We report on two daughters, born to consanguineous parents, who had severe mental retardation, microcephaly, retinal pigmentary degeneration, and spastic cerebral palsy. We think that this syndrome is the same as that described by Mirhosseini et al [1972] (McK-26805). The presence of consanguinity favors the hypothesis of autosomal recessive inheritance.
我们报告了一对近亲结婚夫妇所生的两个女儿,她们患有严重智力发育迟缓、小头畸形、视网膜色素变性和痉挛性脑瘫。我们认为这种综合征与米尔侯赛尼等人(1972年)所描述的相同(McK-26805)。近亲结婚的情况支持常染色体隐性遗传的假说。