Case Report
Rubinstein-Taybi Syndrome Associated with Congenital Hypothyroidism and Hypertrichosis
1Department of Pediatrics, Erciyes University Medical Faculty, Kayseri, Turkey
J Clin Pract Res 2007; 29(1): 71-74
Abstract
Rubinstein-Taybi syndrome is a genetic syndrome characterized by broad thumbs and large toes, growth retardation, mental deficiency and dysmorphic facies. We report a case of Rubinstein-Taybi Syndrome associated with congenital hypothyroidism and hypertrichosis, because of its rarity.
Keywords: Congenital hypothyroidism, Hypertrichosis, Rubinstein-Taybi syndrome
Konjenital Hipotiroidizm ve Hipertrikoziz İle Birlikte Olan Rubinstein-Taybi Sendromu
1Department of Pediatrics, Erciyes University Medical Faculty, Kayseri, Turkey
Journal of Clinical Practice and Research 2007; 1(29): 71-74
Rubinstein-Taybi Sendromu extremite anomalileri, mental retardasyon ve dismorfik yüz görüntüsüyle karakterizedir. Rubinstein-Taybi Sendromu ile birlikte konjenital hipotiroidi ve hipertrikozizi olan bir yenidoğan vakası nadir olması nedeniyle sunuldu.
Anahtar Kelimeler: Rubinstein-Taybi Sendromu, Konjenital hipotiroidizm, Hipertrikoz