Najjar S S, Der Kaloustian V M, Ardati K O
Clin Genet. 1984 Oct;26(4):371-3. doi: 10.1111/j.1399-0004.1984.tb01073.x.
Two brothers, products of a consanguineous marriage, had severe hypoplastic genitalia and cardiomyopathy. These findings are similar to those of three other brothers of another consanguineous family who in addition had evidence of mental retardation. These five boys probably represent a previously undescribed syndrome of genetic origin but of poorly understood pathogenesis.
一对兄弟是近亲结婚的产物,他们患有严重的生殖器发育不全和心肌病。这些发现与另一个近亲家庭的其他三个兄弟相似,另外这三个兄弟还有智力发育迟缓的迹象。这五个男孩可能代表了一种以前未被描述过的、起源于遗传但发病机制尚不清楚的综合征。