Ardinger H H, Hanson J W, Zellweger H U
Am J Med Genet. 1984 Dec;19(4):653-64. doi: 10.1002/ajmg.1320190405.
We have studied five males with Börjeson-Forssman-Lehmann syndrome (BFLS) from two unrelated families. They had a characteristic facial appearance with prominent supraorbital ridges, deep-set eyes, ptosis, and large ears, as well as obesity, severe mental retardation, hypotonia, and hypogonadism. Ophthalmologic, EEG, and skeletal abnormalities were also present. The findings in several presumed or possible heterozygous women were evaluated and suggested a wide range of phenotypic effects varying between apparent normality to mild or moderately evident BFLS manifestations. The observed pattern of occurrence of the BFLS in our two families provides strong support for X-linked inheritance. In clinically normal female relatives at risk for being carriers of BFLS, we have been unsuccessful in identifying a reliable screening test. The condition in our and previously reported patients was contrasted with other malformation syndromes and our findings support the conclusion that BFLS is a distinct and clinically identifiable disorder.
我们研究了来自两个不相关家庭的5名患有博耶森-福斯曼-莱曼综合征（BFLS）的男性。他们具有特征性的面容，眶上嵴突出、眼深陷、上睑下垂和耳朵大，还伴有肥胖、严重智力迟钝、肌张力减退和性腺功能减退。也存在眼科、脑电图和骨骼异常。对几名推测的或可能的杂合子女性的检查结果进行了评估，结果表明其表型效应范围广泛，从明显正常到轻度或中度明显的BFLS表现不等。在我们的两个家族中观察到的BFLS发病模式为X连锁遗传提供了有力支持。对于有风险成为BFLS携带者的临床正常女性亲属，我们未能成功确定一种可靠的筛查测试。我们的患者以及先前报道的患者的病情与其他畸形综合征进行了对比，我们的研究结果支持以下结论：BFLS是一种独特的、临床上可识别的疾病。
