Vernekar J A, Mishra G K, Pinto R G, Bhandari M, Mishra M
Department of Radio-diagnosis, Goa Medical College, Panjim-Goa, India.
Australas Radiol. 1991 May;35(2):186-8. doi: 10.1111/j.1440-1673.1991.tb02864.x.
Meckel Gruber syndrome is a rare autosomal recessive disorder with major characteristic features consisting of occipital encephalocele, polydactyly and polycystic kidneys along with other associated malformation. Antenatal ultrasonic examination can establish the correct diagnosis by identifying at least two of the major features described. The antenatal ultrasonic findings and pathology of this uncommon entity are discussed.
梅克尔格鲁伯综合征是一种罕见的常染色体隐性疾病,主要特征包括枕部脑膨出、多指(趾)畸形和多囊肾,以及其他相关畸形。产前超声检查通过识别至少两种上述主要特征可做出正确诊断。本文讨论了这种罕见疾病的产前超声表现及病理情况。