Article
A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2005
Akalin I, Senses D A, Ilgin-Ruhi H, Misirlioğlu E, Yalçiner M, Cetinkaya E, Fryns J P, Tükün A
Abstract excerpt
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.
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