A novel Fryns «anophthalmia-plus» syndrome associated with primary hypothyroidism

Akalin I., Şenses D., ILGIN RUHİ H., Misirlioǧlu E., Yalçiner M., Çetinkaya E., ...More

Genetic Counseling, vol.16, no.2, pp.145-148, 2005 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 2
  • Publication Date: 2005
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.145-148
  • Keywords: Congenital hypothyroidism, Fryns «anophthalmia-plus» syndrome
  • Ankara University Affiliated: Yes

Abstract

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.