Published in:
01-05-2016 | Scientific Letter
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation
Published in: Indian Journal of Pediatrics | Issue 5/2016
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To the Editor : A 10-y-old girl was diagnosed with Rubinstein Taybi Syndrome (RTS) based on distinctive facial features (low hanging columella, high palate, grimacing smile, talon cusps), broad, angulated thumbs and great toes, short stature and moderate intellectual disability (Fig. 1). Her younger sister, who died at 11 mo of age due to acute myeloid leukemia, did not have clinical features of RTS.
Fig. 1
Clinical photographs of the child (a, b, c, d) showing characteristic features of RTS such as overhanging columella, grimacing smile, broad and angulated toes and thumbs, however, palpebral fissures are horizontal. Sequence chromatogram (e) showing presence of heterozygous mutation c.1282C > T or p.P428S in EP300 gene
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