Sibert J R, Bray P T
Clin Genet. 1977 Jun;11(6):394-6. doi: 10.1111/j.1399-0004.1977.tb01333.x.
A family is described with infantile Blount's disease (tibia vara) following an autosomal dominant mode of inheritance. The bow legs in infancy of family members seem to improve with age, although the literature appears to imply that this is a progressive condition. It is speculated that infantile Blount's disease may be inherited as an autosomal dominant condition with variable penetrance, and that genetic factors have been noted only infrequently, as parents may have improved with age or have been affected only mildly.
本文描述了一个遵循常染色体显性遗传模式的患有婴儿型布朗特病(胫骨内翻)的家族。家族成员在婴儿期的弓形腿似乎会随着年龄增长而改善,尽管文献似乎暗示这是一种进行性疾病。据推测,婴儿型布朗特病可能作为一种具有可变外显率的常染色体显性疾病遗传,而且由于父母可能随着年龄增长而有所改善或仅受到轻微影响,因此遗传因素很少被注意到。