[Cat eye syndrome with pituitary dwarfism and normal mental development].
In the so-called "cat-eye" syndrome are associated the following malformations: coloboma iridis, anal atresia, pre-auricular fistullae with an extra 47th chromosome of the G group type. About twenty cases have already been reported. Some are familial cases and some have the complete phenotype but without the extra chromosome. Even if the structure of the material of this element is doubtful, its responsability in the phenotype is likely. This case is reported since the patient has pituitary dwarfism and normal intelligence.
D000015:Abnormalities, Multiple; D001003:Anal Canal / Q000002:abnormalities*; D001006:Anus, Imperforate / Q000150:complications*; D002648:Child; D002869:Chromosome Aberrations; D002904:Chromosomes, Human, 21-22 and Y; D003103:Coloboma / Q000150:complications*; D004393:Dwarfism, Pituitary / Q000150:complications*; D004431:Ear, External / Q000002:abnormalities*; D006801:Humans; D007360:Intelligence; D008297:Male
Syndrome dit de l'oeil de chat avec nanisme hypophysaire et developpement mental normal