PubMed:24666291 JSONTXT

Congenital hypothyroidism in Rieger Syndrome. 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.