Welling P, Pfeiffer R A, Kosenow W, Bliesener J A, Jones K V, Haarmeyer A
Z Kinderheilkd. 1975;118(4):315-35.
5 Male children exhibiting the typical features of the Prune-Belly syndrome (malformations of the urogenital tract, aplasia of abdominal muscles) are described. Two of these are deaf. This syndrome has also been observed in a few females. Final interpretation of the cause and pathogenesis cannot yet be given. In two siblings with defects of the abdominal muscles an contractures of the joints, but without renal anomalies, a new and hitherto undescribed hereditary syndrome seems to be present.
本文描述了5名表现出典型梅干腹综合征特征(泌尿生殖道畸形、腹肌发育不全)的男童。其中两名失聪。该综合征在少数女性中也有观察到。目前尚无法对病因和发病机制做出最终解释。在两名患有腹肌缺陷和关节挛缩但无肾脏异常的兄弟姐妹中,似乎存在一种新的、迄今未被描述的遗传综合征。