Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome

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• 作者：Rabah M. Shawky^a ; ^{shawkyrabah@yahoo.com} ; Nermine S. Elsayed^b ; Neveen S. Seifeldin^c
• 关键词：Rubinstein-Taybi Syndrome ; Congenital glaucoma ; Megalocornea ; Broad halluces ; Kyphosis ; Broad thumbs ; Dysplastic nails
• 刊名：Egyptian Journal of Medical Human Genetics
• 出版年：2012
• 期刊代码：pca123_11108630
• 类别：med
• 出版时间：June, 2012
• 卷：13
• 期：2
• 页码：233-237
• 文件大小：929 K

摘要

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, 5 months 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.