RESUMO
Objective To explore the clinical and genetic features of Rubinstein-Taybi syndrome (RSTS). Methods The clinical data of 2 children with RSTS were reviewed and analyzed. Results Two male children (3 years old and 4 months old) were admitted to hospital because of growth retardation. Both of them were characterized by short stature, language and motor retardation, excessive hairiness and cryptorchidism. Case 1 had slightly broad thumbs and toes, and case 2 had distinctive facial features of high arched palate, broad nasal bridge, ptosis, and obviously broad thumbs and toes. Cardiac dysplasia was found in both of them by echocardiography. The c.152T>G (L51X) heterozygous mutation was found in case 1 by high throughput sequencing and genomic chip technology, and this mutation has not been reported. Deletion of 2.5 Mb in chromosome 16p13.3 region was found in case 2. Conclusions The main clinical manifestations of RSTS are excess hair, deformity of thumbs and toes, deformity of the heart development, and growth retardation. Molecular detection can help the clinical diagnosis.