Li Yuan, He Shan, Zhu Hong-Ling
Department of Pediatrics, First People's Hospital of Yunnan Province, Kunming 650032, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Nov;19(11):1155-1158. doi: 10.7499/j.issn.1008-8830.2017.11.006.
The patient was a girl aged 3 years and 8 months with normal body length and body weight at birth. The girl had feeding difficulty after birth. Her height, body weight, and head circumference were below the 3rd percentile. She had intellectual disability and an unusual facies manifesting as arched shaggy eyebrows, down-slanting palpebral fissures, and broad nasal bridge, but had no a beaked nose, broad thumbs, or big toes. These clinical manifestations were basically consistent with Rubinstein-Taybi syndrome (RSTS). Gene sequencing identified a heterozygous splice site mutation, c.3779T+1G>T, in the CREBBP gene, which did not exist in her parents. Therefore, a definite diagnosis of RSTS was made. The mutation c.3779T+1G>T had not been reported in the Human Gene Mutation Database and was identified as a novel pathogenic mutation. Then the girl was given rehabilitation training for delayed language and motor development. The girl has been followed up for 3 months in the outpatient department, but the effect of rehabilitation treatment has not been evaluated.
该患者为一名3岁8个月的女孩，出生时身长和体重正常。女孩出生后有喂养困难。她的身高、体重和头围均低于第3百分位数。她有智力障碍和特殊面容，表现为拱形浓眉、睑裂向下倾斜和鼻梁宽阔，但没有鹰嘴鼻、宽阔的拇指或大脚趾。这些临床表现基本符合鲁宾斯坦-泰比综合征（RSTS）。基因测序在CREBBP基因中鉴定出一个杂合剪接位点突变c.3779T+1G>T，其父母中不存在该突变。因此，确诊为RSTS。突变c.3779T+1G>T在人类基因突变数据库中未被报道，被鉴定为一种新的致病突变。随后，该女孩因语言和运动发育迟缓接受了康复训练。该女孩已在门诊随访3个月，但康复治疗效果尚未评估。
