Herein, a girl diagnosed with RTS and concomitant bilateral simple megalocornea is presented.
📌 3 Maddede Bu Makale
🎯
Amaç & Hipotez:Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder with distinctive fi ndings including skeletal abnormalities, postnatal growth defi ciency, intellectual disability, various dysmorphic features, and ocular abnormalities such as corneal pathologies, glaucoma, strabismus, optic atrophy, and refractive errors.
📊
Temel Bulgular & Veri:Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder with distinctive fi ndings including skeletal abnormalities, postnatal growth defi ciency, intellectual disability, various dysmorphic features, and ocular abnormalities such as corneal pathologies, glaucoma, strabismus, optic atrophy, and refractive errors.
💡
Sonuç & Katkı:Herein, a girl diagnosed with RTS and concomitant bilateral simple megalocornea is presented.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Özet
Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder with distinctive fi ndings including skeletal abnormalities, postnatal growth defi ciency, intellectual disability, various dysmorphic features, and ocular abnormalities such as corneal pathologies, glaucoma, strabismus, optic atrophy, and refractive errors. Herein, a girl diagnosed with RTS and concomitant bilateral simple megalocornea is presented.
Abstract
Rubinstein-Taybi sendromu (RTS), iskelet anomalileri, postnatal gelişme geriliği, zeka geriliği, çeşitli dismorfi k bulgular ve korneal pa- tolojiler, glokom, şaşılık ve kırma kusurları gibi oküler anormallikleri içeren karakteristik bulguları olan nadir bir konjenital hastalıktır. Bu yazıda, RTS ile birlikte eşlik eden bilateral basit megalokornea tanılı bir kız olgu sunulmaktadır.
🔖
Bu Makaleye Atıf Yap
ÖZTÜRK, A. T., ENGİN, C. D., ARIKAN, G., KARABAĞ, R. Y., GÜNENÇ, F., GÜNENÇ, Ü. (2018). Megalocornea in a Case with Rubinstein-Taybi Syndrome. Glokom Katarakt, Cilt: 13 - Sayı: 3, 144–146. https://ajindex.com/articles/226422
Kaynakça (7)
Michail J, Matsoukas J, Theodorou S. Arched, clubbed thumb in strong abduction-extension & other concomitant symptoms. Rev Chir Orthop Reparatrice Appar Mot 1957; 43: 142-6.
Rubinstein JH, Taybi H. Broad thumbs and toes and facial ab- normalities. A possible mental retardation syndrome. Am J Dis Child 1963; 105: 588-608. Hennekam RC. Rubinstein-Taybi syndrome. Eur J Hum Gen- et 2006; 14: 981-5.
Milani D, Manzoni FM, Pezzani L, et al. Rubinstein-Taybi syn- drome: clinical features, genetic basis, diagnosis, and manage- ment. Ital J Pediatr 2015; 41:4. Rubinstein JH. Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988. Am J Med Genet Suppl 1990; 6: 3-16.
VanGenderen MM, Kinds GF, Riemslag FC, Hennekam RC. Oc- ular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. Br J Ophthalmol 2000; 84: 1177-84.
Quaranta L, Quaranta CA. Congenital glaucoma associated with Rubinstein-Taybi syndrome. Acta Ophthalmol Scand 1998; 76: 112-3.
DaCosta J, Brookes J. Infantile glaucoma in Rubinstein-Taybi syn- drome. Eye (Lond) 2012; 26: 1270-1.
Brei TJ, Burke MJ, Rubinstein JH. Glaucoma and fi ndings simu- lating glaucoma in the Rubinstein-Taybi syndrome. J Pediatr Oph- thalmol Strabismus 1995; 32: 248-52. Yeung HH. Childhood glaucoma associated with broad fi ngers and toes. Diagnosis: Infantile glaucoma with Rubinstein-Taybi syn- drome. J Pediatr Ophthalmol Strabismus 2014; 51(6): 329, 354.