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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome
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Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome

机译：面部畸形，骨骼异常，先天性青光眼，指甲发育不良：轻度鲁宾斯坦-泰比综合征

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Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental retardation, broad thumbs and toes, short stature, growth retardation and distinctive facial features. We report an Egyptian patient, 5months old with mild RTS. Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, high arched palate, mild micrognathia, low set posteriorly rotated ears, hirsutism, broad halluces, short 5th toe and dorsal kyphosis. However the antemongoloid slant and board thumbs and fingers were slightly evident. Also our patient had dysplastic toe nails and bilateral congenial glaucoma, with megalocornea and corneal haziness. Congenital glaucoma is considered a rare complication in RTS and dysplastic nails were not previously reported in RTS. High resolution karyotype was normal. Previous studies have documented considerable change in facial phenotype and skeletal changes with age. We consider our patient as having mild form of RTS and the features will be more evident as she grows older.
机译：鲁宾斯坦-泰比综合症（RTS）是一种多发性先天性异常综合症，其特征在于智力低下，拇指和脚趾宽大，身材矮小，发育迟缓和独特的面部特征。我们报告了一名5个月大的轻度RTS埃及患者。我们的患者有轻度智力低下，生长迟缓，小头畸形，肢端亢进，突出的尖鼻子，高弓形的上颚，轻度微念头畸形，低位后旋转耳朵，多毛症，幻觉宽，第五趾短和背侧后凸畸形。然而，前胡同的倾斜和食指和拇指的感觉略显明显。另外，我们的患者脚趾指甲发育异常，双侧先天性青光眼，伴有大眼角膜炎和角膜混浊。先天性青光眼在RTS中被认为是一种罕见的并发症，以前在RTS中没有报道过指甲异常。高分辨率核型正常。先前的研究表明，随着年龄的增长，面部表型和骨骼的变化也很大。我们认为我们的患者患有轻度的RTS，随着年龄的增长，其特征将更加明显。

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