Congenital hypothyroidism in Rieger Syndrome. (2nd January 2016)

• Record Type: Journal Article
• Authors: Örnek, Nurgül; Oğurel, Reyhan; Örnek, Kemal
• Is Part Of: Ophthalmic genetics. Volume 37:Number 1(2016)
• Page Start: 86
• Page End: 88
• Publication Date: 2016-01-02
• Subjects: Congenital -- hypothyroidism -- Rieger Syndrome; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2014.902079
• Languages: English
• ISSNs: 1381-6810

Abstract

Abstract: Rieger syndrome (RS) is a multiple malformation syndrome characterized by ocular manifestations and extraocular defects. Herein, we report a 9-year-old boy who exhibited Rieger Syndrome phenotype as well as congenital hypothyroidism which may be an underappreciated feature of RS.