Tagliavini F, Pilleri G
Acta Neuropathol. 1986;69(1-2):38-44. doi: 10.1007/BF00687037.
A first-time description is given of a unique combination of congenital deformities encountered in a female infant born in the 35th week of gestation and surviving for minutes only. The principal malformations comprised duplicity of the hypophysis cerebri and mammillary bodies, olfactory aplasia, agenesis of corpus callosum, Dandy-Walker syndrome, thoracolumbo-sacral rachischisis and hydromyelia, associated with palato-gnatho-cheilo-schisis, defects in the pericardium and cardiac interventricular septum and gross maldevelopment of the diaphragm. Of these cerebral anomalies, we have chosen to concentrate on the condition which we denominate "diplo-mammillo-hypophysis" (mammillo-hypophyseal duplication) as the object of this study. On grounds of embryonal development it is considered to have come about during the first half of the 2nd month of gestation. The likely genesis of the pathologic findings is discussed.
首次描述了一名孕35周出生的女婴所出现的独特先天性畸形组合，该女婴仅存活了几分钟。主要畸形包括脑垂体和乳头体重复、嗅觉发育不全、胼胝体发育不全、丹迪-沃克综合征、胸腰骶部脊柱裂和脊髓积水，并伴有腭裂、颌唇裂、心包和心脏室间隔缺损以及膈肌严重发育不良。在这些脑部异常中，我们选择将我们命名为“双乳头体-垂体”（乳头体-垂体重复）的病症作为本研究的对象。基于胚胎发育，认为其发生在妊娠第2个月的前半期。文中讨论了病理发现的可能成因。
