Yu C J, Chen C P, Jeng C J, Yang Y C
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, R.O.C.
Zhonghua Yi Xue Za Zhi (Taipei). 1990 Jul;46(1):53-6.
Meckel syndrome is a rare autosomal recessive disorder. The triad of the syndrome consists of occipital encephalocele, polycystic kidneys and postaxial polydactyly. At least two of these features are essential for the diagnosis, but other malformations such as microcephaly, cleft palate and ambiguous genitalia may also be present. The condition is considered invariably fatal. This report demonstrates that the prenatal diagnosis can in principle be established by ultrasound examination alone, and as early as 13 weeks' gestation.
梅克尔综合征是一种罕见的常染色体隐性疾病。该综合征的三联征包括枕部脑膨出、多囊肾和轴后多指畸形。这些特征中至少有两个对诊断至关重要，但也可能出现其他畸形，如小头畸形、腭裂和生殖器模糊。这种情况被认为总是致命的。本报告表明，产前诊断原则上仅通过超声检查即可确立，最早在妊娠13周时即可进行。
