Meinecke P, Bönnemann C G, Laas R
Abteilung Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Germany.
Clin Dysmorphol. 1992 Jan;1(1):43-6.
Report on a female infant with iris coloboma on the right and microphthalmia/orbital cyst on the left, single nostril, radial defectis, abnormal lung lobation, congenital heart defect, hypoplastic spleen, absent gallbladder, microgastria, unilateral renal aplasia, arhinencephaly and fused thalami. This case represents an unusually severe expression of a probably rare association recently reviewed by Lueder et al. (1989).
关于一名女婴的报告,该女婴右侧患有虹膜缺损,左侧患有小眼症/眼眶囊肿、单鼻孔、桡骨缺损、肺叶异常、先天性心脏缺陷、脾发育不全、胆囊缺如、小胃、单侧肾发育不全、无脑回畸形和丘脑融合。本病例代表了一种可能罕见的关联的异常严重表现,最近由吕德等人(1989年)进行了综述。