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

Akalin, I.; Şenses, D.A.; ILGIN RUHİ, HATİCE; Misirlioǧlu, E.; Yalçiner, M.; Çetinkaya, E.; Fryns, J.P.; Tükün, A.

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

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

Genetic Counseling, cilt.16, sa.2, ss.145-148, 2005 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 16 Sayı: 2
Basım Tarihi: 2005
Dergi Adı: Genetic Counseling
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.145-148
Anahtar Kelimeler: Congenital hypothyroidism, Fryns «anophthalmia-plus» syndrome
Ankara Üniversitesi Adresli: Evet

Özet

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.