Weber F T, Frias J L, Julius R L, Felman A H
J Med Genet. 1978 Feb;15(1):63-6. doi: 10.1136/jmg.15.1.63.
A 28-year-old man with mental retardation and multiple congenital malformations was found to have the classical features of Borjeson-Forssman-Lehmann syndrome. Endocrine evaluations showed primary hypogonadism as the underlying endocrine abnormality rather than hypopituitarism as suggested in earlier reports.
一名患有智力障碍和多种先天性畸形的28岁男性被发现具有博耶森-福斯曼-莱曼综合征的典型特征。内分泌评估显示原发性性腺功能减退是潜在的内分泌异常,而非如早期报告所提示的垂体功能减退。