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一个家族中十名成员的股骨头骨骺滑脱:可能为常染色体显性遗传,外显率可变(作者译)

[Slipped capital femoral epiphyses in ten members of one family: probably autosomal dominant transmission with variable penetrance (author's transl)].

作者信息

Ochsner P E, Razavi R, Schinzel A

出版信息

Z Orthop Ihre Grenzgeb. 1977 Dec;115(6):840-7.

PMID:602375
Abstract

Ten members of a family suffered from slipped capital femoral epiphyses (ECF), and two further descendants had coxarthrosis possibly following subclinical course of an ECF. This pedigree is suggestive for a dominant inheritance with variable penetrance. Besides a few families with more than two affected members, almost 95% of the cases in the literature occur sporadically, many of these probably representing phenocopies. In view of the recurrence risk (at least 5% in sporadic cases), genetic counseling of the parents of any patient is recommended. Since early onset of treatment improves the prognosis considerably, parents of an affected child should be informed to pay special attention to early symptoms in their younger children. Moreover, preventive radiological examinations may be indicated in families at a higher risk. For imminent ECF, bilateral epiphyseal spiking is the treatment of choice.

摘要

一个家族中有10名成员患有股骨头骨骺滑脱(ECF),另外两名后代可能在ECF的亚临床病程后出现了髋关节病。这个家系提示为显性遗传且外显率可变。除了少数有两名以上受累成员的家族外,文献中几乎95%的病例是散发性的,其中许多可能是表型模拟。鉴于复发风险(散发性病例至少为5%),建议对任何患者的父母进行遗传咨询。由于早期治疗可显著改善预后,应告知患病儿童的父母特别注意其年幼子女的早期症状。此外,对于高危家族可能需要进行预防性放射学检查。对于即将发生的ECF,双侧骨骺固定术是首选治疗方法。

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