Fragoso R, Cantú J M
Clin Genet. 1984 Feb;25(2):187-90. doi: 10.1111/j.1399-0004.1984.tb00483.x.
We studied four sibs, two males and two females, who presented psychomotor retardation, typical flat facies and some features of the Marfan phenotype such as tall stature, long and slim limbs, arm span larger than height, "arachnodactyloid" hands and feet, little subcutaneous fat and muscle hypotonia. It is concluded that the aggregate of morphoneurological anomalies constitute a new syndrome probably inherited in an autosomal recessive fashion.
我们研究了四个同胞，两男两女，他们均表现出精神运动发育迟缓、典型的扁平面容以及马凡氏综合征的一些特征，如身材高大、四肢细长、臂展大于身高、手脚呈“蜘蛛样指（趾）”、皮下脂肪少和肌张力低下。结论是，这些神经精神异常的总和构成了一种可能以常染色体隐性方式遗传的新综合征。
