论文部分内容阅读
1969年由Opitz等人在3个家族和由Christian等人在一个家族中首次描述了BBB综合征病人。男性病人有不同程度的尿道下裂和眼距增宽,而杂合子女性仅表现眼裂增宽,本征的遗传方面是不完全清楚的。本文报告一例男孩,先证者于1981年5月出生,有一姐姐6岁健康。生后5个月时体重为5,400g,身长60cm,头围39cm(全部小于第三百分位)。外眦与内眦距离为40mm,两外眦距离为85cm。颅骨X线照片确定眼窝距离为30mm,大于平均值2个标
The first case of BBB syndrome was described by Opitz et al in 1969 in 3 families and by Christian et al. In one family. Male patients have varying degrees of hypospadia and widening of the eye, while heterozygous female only shows the enlargement of the eye, the intrinsic genetic aspects are not completely clear. This article reports a boy who was born in May 1981 and has a sister aged 6 years old. 5 months after birth weight of 5,400 g, length 60cm, head circumference 39cm (all less than the third percentile). The outer 眦 and inner 眦 distance of 40mm, two 眦 distance of 85cm. X-ray skull to determine the distance between the eye socket 30mm, greater than the average of 2 standard