[Cerebral and ocular abnormalities with anterior pituitary insufficiency of familial nature].
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D002829:Choroid / Q000002:abnormalities; D003103:Coloboma / Q000235:genetics; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics*; D007223:Infant; D008297:Male; D012160:Retina / Q000002:abnormalities
Malformations cérébrales et oculaires avec insuffisance antéhypophysaire de caractère familial.