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

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,...

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Veröffentlicht in:The Egyptian journal of medical human genetics 2012-06, Vol.13 (2), p.233-237
Hauptverfasser: Shawky, Rabah M., Elsayed, Nermine S., Seifeldin, Neveen S.
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Elsayed, Nermine S.
Seifeldin, Neveen S.
description 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.
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subjects Broad halluces
Broad thumbs
Congenital glaucoma
Dysplastic nails
Genetic disorders
Kyphosis
Megalocornea
Patients
Rubinstein-Taybi Syndrome
الاضطرابات الوراثية
المرضى
title Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome
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