The "cat eye" syndrome--report of a case with hypothyroidism.
Clinical, genetic and endocrine findings in a male patient aged 27, diagnosed as a "Cat Eye" syndrome bearer are presented. Clinically the patient shows: moderate psychic retardation, high forehead, epicanthus, strabismus, microretrognathism, large, low inserted ears, kypho-scoliosis, genu valgum; mild hypothyroidism. Cytogenetic examination reveals the presence of an additional small acrocentric chromosome.
D000328:Adult; D003103:Coloboma / Q000150:complications / Q000235:genetics*; D006801:Humans; D007037:Hypothyroidism / Q000150:complications; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D008297:Male; D013577:Syndrome