Congenital hypothyroidism in Rieger Syndrome

被引：4

作者：

Ornek, Nurgul ^{[1
]}

Ogurel, Reyhan ^{[1
]}

Ornek, Kemal ^{[1
]}

机构：

[1] Kirikkale Univ, Sch Med, Dept Ophthalmol, TR-71100 Yahsihan, Kirikkale, Turkey

来源：

OPHTHALMIC GENETICS | 2016年 / 37卷 / 01期

关键词：

Congenital; hypothyroidism; Rieger Syndrome; NEURAL CREST; GENETICS;

D O I：

10.3109/13816810.2014.902079

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：86 / 88

页数：3

共 16 条

[1] Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test [J].

Bijarnia, Sunita ;

Wilcken, Bridget ;

Wiley, Veronica C. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 (03) :827-833

[2] Axenfeld-Rieger syndrome: new perspectives [J].

Chang, Ta C. ;

Summers, C. Gail ;

Schimmenti, Lisa A. ;

Grajewski, Alana L. .

BRITISH JOURNAL OF OPHTHALMOLOGY, 2012, 96 (03) :318-322

[3]

Fragman H, 2010, MOL CELL ENDOCRINOL, V323, P35

[4] Role of thyroid hormone in craniofacial and eye development using a rat model [J].

Gamborino, MJ ;

Sevilla-Romero, E ;

Muñoz, A ;

Hernández-Yago, J ;

Renau-Piqueras, J ;

Pinazo-Durán, MD .

OPHTHALMIC RESEARCH, 2001, 33 (05) :283-291

[5] CELLULAR AND MOLECULAR CONTRIBUTIONS OF THE CARDIAC NEURAL CREST TO CARDIOVASCULAR DEVELOPMENT [J].

KIRBY, ML .

TRENDS IN CARDIOVASCULAR MEDICINE, 1993, 3 (01) :18-23

[6] ROLE OF NEURAL CREST IN CONGENITAL HEART-DISEASE [J].

KIRBY, ML ;

WALDO, KL .

CIRCULATION, 1990, 82 (02) :332-340

[7] Congenital hypothyroidism in Peters plus syndrome [J].

Kosaki, Rika ;

Kamiishi, Akiko ;

Sugiyama, Ryusuke ;

Kawai, Masataka ;

Hasegawa, Tomonobu ;

Kosaki, Kenjiro .

OPHTHALMIC GENETICS, 2006, 27 (02) :67-69

[8] Molecular genetics of congenital hypothyroidism [J].

Macchia, PE ;

De Felice, M ;

Di Lauro, R .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 1999, 9 (03) :289-294

[9] Recent advances in understanding the molecular basis of primary congenital hypothyroidism [J].

Macchia, PE .

MOLECULAR MEDICINE TODAY, 2000, 6 (01) :36-42

[10] Glaucoma with primary iris malformations. Axenfeld-Rieger syndromes, ICE syndromes (essential iris atrophy, Chandler's syndrome, Cogan-Reese syndrome), Aniridia [J].

Ninios, K. ;

Jonescu-Cuypers, C. P. ;

Seitz, B. .

OPHTHALMOLOGE, 2011, 108 (06) :585-593

← 1 2 →