Castilla E E, Paz J E, Orioli I M
Am J Med Genet. 1979;4(3):263-9. doi: 10.1002/ajmg.1320040309.
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.
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。
