García J, Romero-Araus J
Departamento de Toco-Cirugía. Hospital de Ginecología y Obstetricia No.4 Luis Castelazo Ayala, Instituto Mexicano del Seguro Social, México, D.F.
Ginecol Obstet Mex. 1996 Sep;64:422-9.
Sirenomelia is an uncommon congenital malformation of unknown etiology characterized by all degrees of severity in merning, malrotation, and dysgenesis of the lower limbs, combining as it does malformation with several anomalies of the external and internal organs, specially of the urogenital and gastrointestinal systems and other lumbosacral vertebral abnormalities; the severity of the associated malformations are not compatible with life. A genetic mechanism leading to sirenomelia is unlikely, due to the absence of the familial cases.
并腿畸形是一种病因不明的罕见先天性畸形,其特征为下肢不同程度的缺如、旋转不良和发育不全,常伴有内外器官的多种畸形,尤其是泌尿生殖系统和胃肠道系统的畸形以及其他腰骶椎异常;相关畸形的严重程度往往使患儿无法存活。由于缺乏家族病例,不太可能存在导致并腿畸形的遗传机制。