Wiedemann-Steiner syndrome(OMIM#605130)is a rare congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature;consistent facial features,including long eyelashes,thick or arche...Wiedemann-Steiner syndrome(OMIM#605130)is a rare congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature;consistent facial features,including long eyelashes,thick or arched eyebrows with a lateral flare,wide nasal bridge,and downslanting and vertically narrow palpebral fissures;mild to moderate intellectual disability;behavioral difficulties;and hypertrichosis on the back.It is caused by heterozygous pathogenic variants in KMT2A.This gene has an established role in histone methylation,which explains the overlap of Wiedemann-Steiner syndrome with other chromatinopathies,a heterogeneous group of syndromic conditions that share a common trigger:The disruption of one of the genes involved in chromatin modification,leading to dysfunction of the epigenetic machinery.展开更多
目的:探讨1例KMT2A基因新发突变导致的Wiedemann-Steiner综合征(WDSTS)合并矮身材患儿的临床特点和重组人生长激素(rhGH)治疗效果。方法:收集1例WDSTS患儿的临床资料,进行全外显子基因测序,应用rhGH治疗,并进行文献复习。结果:患儿女,6...目的:探讨1例KMT2A基因新发突变导致的Wiedemann-Steiner综合征(WDSTS)合并矮身材患儿的临床特点和重组人生长激素(rhGH)治疗效果。方法:收集1例WDSTS患儿的临床资料,进行全外显子基因测序,应用rhGH治疗,并进行文献复习。结果:患儿女,6岁7个月,因“生长迟缓6年”就诊,身高109.0 cm (−2.01 SD),头围47.0 cm (G,患儿父母无此变异。给予rhGH治疗3月,身高增长3.0 cm,治疗过程中未出现不良反应。结论:WDSTS合并矮身材患儿短期应用rhGH治疗有效,远期需要监测其安全性。展开更多
文摘Wiedemann-Steiner syndrome(OMIM#605130)is a rare congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature;consistent facial features,including long eyelashes,thick or arched eyebrows with a lateral flare,wide nasal bridge,and downslanting and vertically narrow palpebral fissures;mild to moderate intellectual disability;behavioral difficulties;and hypertrichosis on the back.It is caused by heterozygous pathogenic variants in KMT2A.This gene has an established role in histone methylation,which explains the overlap of Wiedemann-Steiner syndrome with other chromatinopathies,a heterogeneous group of syndromic conditions that share a common trigger:The disruption of one of the genes involved in chromatin modification,leading to dysfunction of the epigenetic machinery.
文摘目的:探讨1例KMT2A基因新发突变导致的Wiedemann-Steiner综合征(WDSTS)合并矮身材患儿的临床特点和重组人生长激素(rhGH)治疗效果。方法:收集1例WDSTS患儿的临床资料,进行全外显子基因测序,应用rhGH治疗,并进行文献复习。结果:患儿女,6岁7个月,因“生长迟缓6年”就诊,身高109.0 cm (−2.01 SD),头围47.0 cm (G,患儿父母无此变异。给予rhGH治疗3月,身高增长3.0 cm,治疗过程中未出现不良反应。结论:WDSTS合并矮身材患儿短期应用rhGH治疗有效,远期需要监测其安全性。
