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一些常见骨骼畸形的病因及相互关系。(马蹄内翻足和仰趾外翻足、内翻足、先天性髋关节脱位以及婴儿特发性脊柱侧凸)

Aetiology and interrelationship of some common skeletal deformities. (Talipes equinovarus and calcaneovalgus, metatarsus varus, congenital dislocation of the hip, and infantile idiopathic scoliosis).

作者信息

Wynne-Davies R, Littlejohn A, Gormley J

出版信息

J Med Genet. 1982 Oct;19(5):321-8. doi: 10.1136/jmg.19.5.321.

Abstract

The Edinburgh Register of the Newborn 1964-1968 and the Edinburgh Scoliosis Clinic 1964-1971 have been used to establish the population frequency in the city of the idiopathic forms of talipes equinovarus and calcaneovalgus, metatarsus varus, congenital dislocation of the hip, and infantile scoliosis. A survey of 165 patients now aged 7 to 11 years showed an aetiological relationship, but with differing environmental factors. These factors were established by comparison with the Edinburgh Register control group of 692 normal infants born over the same period, giving a unique opportunity to obtain more accurate antenatal data than has previously been possible. The principal associations were: talipes equinovarus with antepartum haemorrhage and maternal hypertension; metatarsus varus with twin pregnancies; congenital dislocation of the hip with first born children, older than average fathers, breech presentation, a significant lack of menstrual problems in the mother, and maternal upper respiratory infection during pregnancy; infantile idiopathic scoliosis with breech presentation, prematurity, and the onset of the curve in the winter months. No significant association with raised intrauterine pressure (hydramnios or oligohydramnios) was found among these simple idiopathic deformities. It is concluded that the multifactorial genetic background in likely to be similar in all, but that the additional environmental element is variable.

摘要

利用1964 - 1968年爱丁堡新生儿登记册和1964 - 1971年爱丁堡脊柱侧弯诊所的数据,确定了爱丁堡市特发性马蹄内翻足、仰趾外翻足、内翻足、先天性髋关节脱位和婴儿脊柱侧弯的发病率。对165名年龄在7至11岁的患者进行的一项调查显示了病因学上的关联,但环境因素各不相同。通过与同期出生的692名正常婴儿的爱丁堡登记册对照组进行比较,确定了这些因素,从而提供了一个前所未有的机会来获取比以往更准确的产前数据。主要关联如下:马蹄内翻足与产前出血和母亲高血压有关;内翻足与双胎妊娠有关;先天性髋关节脱位与头胎、父亲年龄偏大、臀位分娩、母亲明显没有月经问题以及母亲孕期上呼吸道感染有关;婴儿特发性脊柱侧弯与臀位分娩、早产以及冬季出现侧弯有关。在这些单纯的特发性畸形中,未发现与子宫内压力升高(羊水过多或过少)有显著关联。结论是,所有这些疾病的多因素遗传背景可能相似,但额外的环境因素是可变的。

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本文引用的文献

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Congenital deformities of mechanical origin.机械性起源的先天性畸形。
Arch Dis Child. 1955 Feb;30(149):37-41. doi: 10.1136/adc.30.149.37.
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Family studies and aetiology of club foot.家族研究与马蹄内翻足的病因学
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