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1975 - 1984年匈牙利孤立性手足裂的流行病学研究。

An epidemiological study of isolated split hand/foot in Hungary, 1975-1984.

作者信息

Czeizel A E, Vitéz M, Kodaj I, Lenz W

机构信息

Department of Human Genetics and Teratology, National Institute of Hygiene-WHO Collaborating Centre for the Community Control of Hereditary Disease, Budapest, Hungary.

出版信息

J Med Genet. 1993 Jul;30(7):593-6. doi: 10.1136/jmg.30.7.593.

Abstract

A population based and validated 10 year cohort of 94 cases with split hand/foot born in Hungary, 1975-1984 was evaluated. This type of congenital limb deficiency was relatively frequently (43%) associated with non-limb defects. Fifty-four cases with isolated split hand/foot are evaluated in this paper. A single limb was affected in 78% of cases. The upper limbs were 21 times more frequently affected in unimelic cases with a right sided predominance and male excess. Case-control analysis indicated intrauterine growth retardation and lower socioeconomic status of parents of cases. Family study showed six familial cases with autosomal dominant inheritance among 152 first and 452 second degree relatives. All familial cases were males.

摘要

对1975年至1984年出生于匈牙利的94例手足裂病例进行了一项基于人群且经过验证的10年队列研究。这种先天性肢体缺陷相对频繁地(43%)与非肢体缺陷相关。本文评估了54例孤立性手足裂病例。78%的病例仅一侧肢体受累。在单侧肢体受累的病例中,上肢受累的频率是下肢的21倍,且右侧更为常见,男性多于女性。病例对照分析表明,病例组患儿存在宫内生长迟缓,其父母的社会经济地位较低。家系研究显示,在152名一级亲属和452名二级亲属中,有6例家族性病例呈常染色体显性遗传。所有家族性病例均为男性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d74c/1016461/09b937a6a0c6/jmedgene00009-0061-a.jpg

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