rubinstein-taybi syndrome; a case report
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abstract
objective rubinstein-taybi syndrome is a rare genetic disorder with characteristic featuresincluding downward slanting palpebral fissures, broad thumbs and halluces,and mental retardation. systemic features may involve cardiac, auditory,ophthalmic, endocrine, nervous, renal and respiratory systems. this syndromeis sporadic in nature and has been linked to microdeletion at 16p 13.3 encodingcreb-binding protein gene (crebbp). we report a 15-years-old girl, a knowncase of chronic renal failure, with downward slanting palpebral fissures towardthe ears, hypertelorism, short stature, beaked nose, micrognathia, strabismus,dental anomalies, large toes, broad thumbs, and mental retardation.
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Journal title:
iranian journal of child neurologyجلد ۵، شماره ۲، صفحات ۳۹-۴۲
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