發(fā)布時(shí)間：2018-10-24 11:11

【摘要】：患兒女,3歲8個(gè)月,出生身長、體重正常。生后喂養(yǎng)困難。身高、體重及頭圍均低于第3百分位,伴智力障礙,面容特別,表現(xiàn)為拱形粗眉、眼裂下斜、寬鼻梁,但無喙?fàn)畋羌�、寬大的拇指及腳趾,基本符合Rubinstein-Taybi綜合征(RSTS)的臨床表現(xiàn)�；驕y序發(fā)現(xiàn)患兒CREBBP基因c.3779+1GT雜合剪接位點(diǎn)突變,其父母該位點(diǎn)無變異,患兒明確診斷為RSTS。c.3779+1GT在人類基因突變數(shù)據(jù)庫中未見報(bào)道,為新的致病性突變。確診后主要針對患兒語言及運(yùn)動(dòng)發(fā)育落后進(jìn)行康復(fù)訓(xùn)練。目前患兒門診隨訪3個(gè)月,尚未評估康復(fù)治療療效。
[Abstract]:The girl, 3 years old and 8 months old, was born long and normal weight. It is difficult to feed after birth. Height, weight and head circumference were all lower than the 3rd percentile, accompanied by mental retardation and special facial features, with arched thick eyebrow, lower slant eye fissure, wide nose beam, but beakless nose tip, broad thumb and toe, which basically accorded with the clinical manifestation of Rubinstein-Taybi syndrome (RSTS). CREBBP gene c. 3779 1GT heterozygous splicing site mutation was found in the children by gene sequencing, but no mutation was found in their parents. The diagnosis of RSTS.c.3779 1GT was not reported in the human gene mutation database, and it was a new pathogenicity mutation. After diagnosis, rehabilitation training was mainly carried out for children with language and motor retardation. At present, the outpatient follow-up 3 months, no evaluation of rehabilitation treatment effect.
【作者單位】： 云南省第一人民醫(yī)院兒科;
【分類號(hào)】：R725.9

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