Rubinstein–Taybi syndrome: a case report

نویسندگان

چکیده

Rubinstein Taybi syndrome (RTS) is a rare genetic condition caused by mutation or deletion in the CREBBP and/or EP300 gene located on chromosome 16. It characterized short stature, moderate to severe learning difficulties, distinctive facial features and broad thumbs toes. occurs estimated 1 1,25000 3,00000 births. Diagnosis mainly depends upon presence of features, abnormal facies, abnormalities limbs. These patients are also at increased risk developing meningioma, other brain tumours leukaemia, thus early diagnosis recognition malignancy can aid successful life-saving interventions.

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ژورنال

عنوان ژورنال: International Journal of Contemporary Pediatrics

سال: 2022

ISSN: ['2349-3283', '2349-3291']

DOI: https://doi.org/10.18203/2349-3291.ijcp20222630