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CASE REPORT
Year : 2012  |  Volume : 39  |  Issue : 1  |  Page : 42-44

Rubinstein Taybi syndrome: Broad thumbs - Hallux syndrome


1 Department of Paediatric Neurology, KLE University's J N Medical College, Belgaum, Karnataka, India
2 Department of Paediatrics, KLE University's J N Medical College, Belgaum, Karnataka, India

Correspondence Address:
Mahesh Kamate
Department of Paediatric Neurology,J.N. Medical College, Belgaum, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-5009.96474

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The Rubinstein Taybi syndrome is a rare genetic disorder that is characterized by varying degrees of intellectual disabilities, distinct facial features, broad thumbs and first toe, and delay in cognitive and motor skill development. This is often detected in newborns because of the physical features that are apparent at birth. Correct diagnosis helps in the appropriate genetic counseling of parents. Here we report a case wherein the characteristic physical features led to the diagnosis of the Rubinstein Taybi Syndrome.


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