Rubinstein-Taybi syndrome with agenesis of corpus callosum.
Ontology highlight
ABSTRACT:
SUBMITTER: Mishra S
PROVIDER: S-EPMC4489069 | biostudies-other | 2015 Apr-Jun
REPOSITORIES: biostudies-other
Publications
Rubinstein-Taybi syndrome with agenesis of corpus callosum.
Mishra Shubhankar S Agarwalla Sunil Kumar SK Potpalle Dnyaneshwar Ramesh DR Dash Nishant Nilotpal NN
Journal of pediatric neurosciences 20150401 2
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 p ...[more]
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