Weill J, Boudailliez B, Piussan C, Ponte C
J Genet Hum. 1985 Jan;33(1):31-5.
Three families presenting one or several cases of brain or ophthalmic abnormalities and an hypopituitarism at least by one of the members have been observed. In the first family, the mother and one of her sons present bilateral choroidoretineal coloboma with amblyopia; one of these two suffers as well from panhypopituitarism. In the second family two premature twins, a brother and his sister, present a syndrome with hypophyseal dwarfism and ophthalmic abnormalities, consisting in the boy's case in an peripapillary depigmentation with no visible sight trouble whereas girl's is showing an extreme microphthalmia with major mental retardation. In the third family two 2nd degree cousins present a panhypopituitarism but only one of the two reveals through neuroradiological investigations corpus callosum and septum lucidum agenesia. The karyotype is normal in all the cases. An hereditary mechanism appears clearly in the first family. It is possible in the second, probable in the third one.
我们观察到三个家庭，其中一个或几个家庭成员出现脑或眼部异常，且至少有一名成员患有垂体功能减退症。在第一个家庭中，母亲和她的一个儿子患有双侧脉络膜视网膜缺损并伴有弱视；这两人中的一人还患有全垂体功能减退症。在第二个家庭中，一对早产双胞胎，即一个兄弟和他的妹妹，患有垂体性侏儒症和眼部异常综合征，在男孩的病例中表现为视乳头周围色素脱失但无明显视力问题，而女孩则表现为极度小眼球并伴有严重智力发育迟缓。在第三个家庭中，两个二级表亲患有全垂体功能减退症，但通过神经放射学检查，两人中只有一人显示胼胝体和透明隔发育不全。所有病例的核型均正常。在第一个家庭中，遗传机制明显。在第二个家庭中有可能，在第三个家庭中很可能存在遗传机制。
