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胸大肌缺损与波兰综合征

Pectoralis major muscle defect and Poland complex.

作者信息

Castilla E E, Paz J E, Orioli I M

出版信息

Am J Med Genet. 1979;4(3):263-9. doi: 10.1002/ajmg.1320040309.

Abstract

Pectoralis major muscle defect (PMD) was diagnosed in 27 infants from a series of 599,109 live births in South America (1/22,189). In all 27 cases the PMD was unilateral, mainly affecting the right side (20/27), and there were more male (19/27) than female cases. No familial cases and no parental consanguinity were recorded. A positive correlation was observed between PMD and sex hormone intake and vaginal bleeding in the first trimester of pregnancy. In 12 (1/49,925) of the 27 PMD cases hypoplasia and/or syndactyly of the ipsilateral hand was also diagnosed. The index-middle interdigital space was affected in all 11 cases with symbrachydactyly. Additional congenital anomalies were observed in 4/27 cases, and they were: hemangiomas, hypospadias, and clubfeet. Poland complex (12 cases), isolated PMD (15 cases), and isolated symbrachydactyly (18 cases), showed a similar pattern for symmetry, sidedness, syndactyly type, and sex ratio.

摘要

在南美洲599,109例活产婴儿中,诊断出27例患有胸大肌缺损(PMD)(1/22,189)。在所有27例病例中,PMD均为单侧,主要影响右侧(20/27),男性病例(19/27)多于女性病例。未记录到家族性病例和父母近亲结婚情况。观察到PMD与孕期头三个月摄入性激素及阴道出血之间存在正相关。在27例PMD病例中的12例(1/49,925)中,还诊断出同侧手发育不全和/或并指畸形。在所有11例短指并指畸形病例中,示指-中指指间间隙均受累。在4/27例病例中观察到其他先天性异常,分别为:血管瘤、尿道下裂和马蹄内翻足。波兰综合征(12例)、孤立性PMD(15例)和孤立性短指并指畸形(18例)在对称性、患侧、并指类型和性别比例方面表现出相似的模式。

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