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拇外翻遗传:350例拇囊炎畸形患者的系谱研究。

Hallux valgus inheritance: pedigree research in 350 patients with bunion deformity.

作者信息

Piqué-Vidal Carlos, Solé María T, Antich Jaume

机构信息

Centro Médico Teknon, Barcelona, Spain.

出版信息

J Foot Ankle Surg. 2007 May-Jun;46(3):149-54. doi: 10.1053/j.jfas.2006.10.011.

Abstract

Our objective was to construct 3-generation pedigree charts from 350 patients with hallux valgus. During a 1-year period, all consecutive patients (n = 1174) with a painful bunion deformity evaluated roentgenographically were asked to complete a detailed 3-generation family history questionnaire. We studied 350 probands (22 men, 328 women; male/female ratio, 1:14.9; mean age, 47.8 years). Juvenile hallux valgus was diagnosed in 15 patients. Three or more affected members were observed in pedigrees from 244 probands, 2 affected members in 71, and 1 affected member in 35 (proband) (affected subjects per pedigree ranged from 1 to 16). Ninety percent of probands had at least 1 family member affected. The hallux valgus penetrance according to pedigrees from all probands was 56%. The female sex predominated with regard to the gender of parents with hallux valgus, affected branch of the family, and gender of relatives with bunion deformity. Severity of hallux valgus was not significantly influenced by gender, the affected branch of the family, or gender of the affected relatives. Family history of bunion deformity was present in 90% of probands, with vertical transmission affecting some family members across 3 generations, which is compatible with autosomal dominant inheritance with incomplete penetrance.

摘要

我们的目标是为350例拇外翻患者构建三代系谱图。在1年的时间里,对所有经X线检查评估为有疼痛性拇囊炎畸形的连续患者(n = 1174)进行了详细的三代家族病史问卷调查。我们研究了350名先证者(22名男性,328名女性;男女比例为1:14.9;平均年龄47.8岁)。15例患者被诊断为青少年拇外翻。在244名先证者的系谱中观察到3名或更多受影响成员,71名中有2名受影响成员,35名(先证者)中有1名受影响成员(每个系谱中的受影响受试者从1名到16名不等)。90%的先证者至少有1名家庭成员受影响。根据所有先证者的系谱,拇外翻的外显率为56%。在患有拇外翻的父母性别、家族受影响分支以及患有拇囊炎畸形的亲属性别方面,女性占主导。拇外翻的严重程度不受性别、家族受影响分支或受影响亲属性别的显著影响。90%的先证者有拇囊炎畸形家族史,垂直遗传影响了三代中的一些家庭成员,这与不完全外显的常染色体显性遗传相符。

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