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并指畸形:特定类型的发生率

Syndactyly: frequency of specific types.

作者信息

Castilla E E, Paz J E, Orioli-Parreiras I M

出版信息

Am J Med Genet. 1980;5(4):357-64. doi: 10.1002/ajmg.1320050406.

Abstract

Syndactyly without other combined limb anomalies, Poland complex, or amniotic bands, was diagnosed in 174 of 599, 109 consecutive newborn infants (3/10,000). Syndactyly was the only diagnosed anomaly in 133 cases, and it was associated with other anomalies in 41. The most common type of syndactyly was isolated syndactyly of the second and third toes (70 cases), which affected more males than females, and had a higher than expected frequency of white non-Latin-European ancestry. The second most frequent type was isolated syndactyly of the middle and ring fingers (18 cases), and the third was isolated syndactyly of the fourth and fifth toes (13 cases). Considering both isolated and syndromal cases, 66% (114/172) could be assigned to one or another of the fourth genetic categories of syndactyly described by Temtamy and McKusick [1978]. This, plus the high frequency of affected first degree relatives observed (25/434:6%), suggests that the genetic forms of syndactyly may be more common than might be suspected from the small number of pedigrees in the literature.

摘要

在连续的599名新生儿中,109名被诊断为并指(趾)畸形,且无其他合并肢体异常、波兰综合征或羊膜带(发病率为3/10,000)。133例中并指(趾)畸形是唯一诊断出的异常,41例与其他异常相关。最常见的并指(趾)畸形类型是第二和第三趾孤立性并指(趾)(70例),男性患者多于女性,且非拉丁裔白人血统的发病率高于预期。第二常见类型是中指和环指孤立性并指(趾)(18例),第三是第四和第五趾孤立性并指(趾)(13例)。综合孤立性和综合征性病例来看,66%(114/172)可归入Temtamy和McKusick [1978]所描述的并指(趾)畸形的第四种遗传类型中的一种或另一种。这一点,再加上观察到的一级亲属中较高的发病率(25/434:6%),表明并指(趾)畸形的遗传形式可能比从文献中少量家系所推测的更为常见。

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