Genetic Counseling, vol.16, no.2, pp.145-148, 2005 (SCI-Expanded)
A novel Fryns «anophthalmia-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.