Rubinstein-Taybi syndrome with agenesis of corpus callosum.

ABSTRACT: Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder with characteristic morphological anomaly. Our patient was a 4.5-year-old girl came with features like broad thumbs, downward slanting palpebral fissures and mental retardation. Systemic abnormalities such as repeated infection, seizure with developmental delay were also associated with it. She was having head banging behavior abnormal slurring speech, incoordination while transferring things from one hand to other. Galaxy of clinical pictures and magnetic resonance imaging report helped to clinch the diagnosis as a case of "RSTS with corpus callosal agenesis" which to the best of our knowledge has never been reported in past from India.

SUBMITTER: Mishra S 

PROVIDER: S-EPMC4489069 | biostudies-other | 2015 Apr-Jun

REPOSITORIES: biostudies-other