The "cat eye" syndrome--report of a case with hypothyroidism
Ioan, D.; Dumitriu, L.; Fabriţius, K.; Simescu, M.; Maximilian, C.
Endocrinologie 24(2): 129-131
1986
ISSN/ISBN: 0253-1801 PMID: 3738402 Document Number: 271437
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.