A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism
Akalin, I.; Senses, D.A.; Ilgin-Ruhi, H.; Misirlioğlu, E.; Yalçiner, M.; Cetinkaya, E.; Fryns, J.P.; Tükün, A.
Genetic Counseling 16(2): 145-148
2005
ISSN/ISBN: 1015-8146 PMID: 16080293 Document Number: 592848
A novel Fryns "anophthalmla-plus" syndrome associated with primary hypothyroidism: Here, we report a newborn male with "anophthalmia-plus" syndrome and primary congenital hypothyroidism. To our knowledge this is the first case of 'anophthalmia-plus' syndrome associated with congenital hypothyroidism in the literature up to date.