Hallux valgus inheritance: pedigree research in 350 patients with bunion deformity.
Hallux valgus inheritance: pedigree research in 350 patients with bunion deformity.
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DOI：
10.1053/j.jfas.2006.10.011
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发表时间：
2007-05-01
期刊：
影响因子：
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通讯作者：
Antich, Jaume
中科院分区：
文献类型：
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作者：
Pique-Vidal, Carlos;Sole, Maria T;Antich, Jaume
我们的目的是从350例拇外翻患者中构建3代系谱图。在一年的时间里，所有连续的患者（n = 1174），疼痛拇囊炎畸形评估的X线片被要求完成一个详细的3代家族史问卷。我们研究了350名先证者（22名男性，328名女性;男性/女性比例为1：14.9;平均年龄为47.8岁）。15例患者被诊断为青少年拇外翻。在244名先证者的家系中观察到3名或3名以上的受影响成员，71名受影响成员中有2名受影响成员，35名受影响成员（先证者）中有1名受影响成员（每个家系的受影响受试者范围为1至16名）。90%的先证者至少有一名家庭成员受到影响。所有先证者家系的拇外翻发生率为56%。女性在患有拇外翻的父母、受累分支和患有拇囊炎畸形的亲属的性别方面占优势。拇趾外翻的严重程度不受性别、受累家族分支或受累亲属性别的显著影响。90%的先证者有拇囊炎畸形家族史，部分家族成员3代间存在垂直传递，符合常染色体显性遗传不完全显性遗传。
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.