title: Congenital hypothyroidism in Rieger Syndrome.
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.
authors.affiliation: a Department of Ophthalmology , Kırıkkale University School of Medicine , Kırıkkale , Turkey.
authors.forename: Nurgül
authors.initials: N
authors.lastname: Örnek
authors.affiliation: a Department of Ophthalmology , Kırıkkale University School of Medicine , Kırıkkale , Turkey.
authors.forename: Reyhan
authors.initials: R
authors.lastname: Oğurel
authors.affiliation: a Department of Ophthalmology , Kırıkkale University School of Medicine , Kırıkkale , Turkey.
authors.forename: Kemal
authors.initials: K
authors.lastname: Örnek
mesh_terms: D058671:Adrenergic beta-1 Receptor Antagonists / Q000627:therapeutic use; D000869:Anterior Eye Segment / Q000002:abnormalities*; D015784:Betaxolol / Q000627:therapeutic use; D002648:Child; D003409:Congenital Hypothyroidism / Q000150:complications* / Q000175:diagnosis; D005124:Eye Abnormalities / Q000150:complications* / Q000175:diagnosis; D015785:Eye Diseases, Hereditary; D006068:Gonioscopy; D006801:Humans; D007429:Intraocular Pressure / Q000187:drug effects; D008297:Male; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
chemical_list: D058671:Adrenergic beta-1 Receptor Antagonists; D015784:Betaxolol
keywords: Congenital; Rieger Syndrome; hypothyroidism