Henrion R, Aubry M C, Aubry J P, Emmanuelli C N, Dumez Y, Oury J F
J Gynecol Obstet Biol Reprod (Paris). 1981;10(8):831-7.
The authors report four cases of Bonnevie-Ullrich's syndrome where the diagnosis was made by ultrasound. The typical picture is of a cystic retrocervical hygroma with generalised lymphoedema which is more marked in the lower limbs and on the backs of the hands and feet, together with ascites. This syndrome adds up to Turner's syndrome. The diagnosis was definite in one case because it was confirmed by amniocentesis with monosomy X caryotype. It is very likely that the three other cases were the same because the anatomo-pathological features of the external and internal genital organs showed that the baby was feminine. In two cases raised alpha-foetoprotein was found. The levels were 1000 micrograms/ml and 2100 micrograms/ml and the authors discuss the origin of the alpha-foetoprotein. It is advisable to terminate the pregnancies in these major forms of Turner's syndrome because they usually die in utero (in two cases) at different stages of the pregnancy.
作者报告了4例通过超声诊断的邦纳维-乌尔里希综合征病例。典型表现为宫颈后囊性水瘤伴全身性淋巴水肿，下肢以及手背和足背更为明显，同时伴有腹水。该综合征与特纳综合征相关。其中1例诊断明确，因为羊膜穿刺术证实为X染色体单体核型。另外3例很可能也是同样情况，因为内外生殖器的解剖病理特征显示胎儿为女性。2例发现甲胎蛋白升高，水平分别为1000微克/毫升和2100微克/毫升，作者讨论了甲胎蛋白的来源。对于这些主要类型的特纳综合征，建议终止妊娠，因为胎儿通常会在子宫内不同孕周死亡（2例）。
