合并颅颈交界区畸形的Wiedemann-Steiner综合征1例  

A case of Wiedemann-Steiner syndrome with craniocervical junction anomalies

作　　者：裴丽 徐丽娟[1] 张蔷[1] 马凡舒 帅金凤[1] PEI Li;XU Lijuan;ZHANG Qiang;MA Fanshu;SHUAI Jinfeng(Hebei Children’s Hospital,Shijiazhuang,Hebei 050031,China;Graduate School of Hebei Medical University,Shijiazhuang,Hebei 050017,China)

机构地区：[1]河北省儿童医院,河北石家庄050031 [2]河北医科大学研究生学院,河北石家庄050017

出　　处：《中国优生与遗传杂志》2024年第9期1892-1895,共4页Chinese Journal of Birth Health & Heredity

摘　　要：本文对1例合并颅颈交界区(CVJ)畸形的Wiedemann-Steiner综合征(WDSTS)患儿的临床资料进行回顾性分析。患儿,女,8岁,因“身高增长缓慢8年”就诊,身高:111.4 cm(<–3SD),以身材矮小、精神运动发育落后、特殊面容及多毛为主要表现,头颅MRI示颈1层面水平椎管狭窄,脊髓受压变细。寰枢椎CT平扫+三维重建:寰椎前后弓未闭合;颈2~3椎体融合。齿状突距两侧块距离不等。全外显子组测序发现患儿携带KMT2A基因,有1个杂合突变:c.2318dup杂合突变,导致氨基酸发生无义突变(p.Ser774ValfsTer12)。近年来,随着WDSTS报道数量的增加,其基因型和表型谱不断扩大,CVJ畸形也被列入WDSTS的表型谱中,目前,国内暂无WDSTS合并CVJ畸形表型的报道,此类畸形在很大程度上易被忽略。通过此例患儿的报道,有望提高对该病的认识,以早期发现和预防WDSTS患者的颅颈交界区畸形引起的并发症。To review and analyze the clinical date of a child with Wiedemann-Steiner syndrome(WDSTS)complicated with craniocervical junction(CVJ)malformation.The eight-year old girl presented with growth retardation for eight years,with height 111.4 cm(<–3SD),mainly characterized by short stature,poor psychomotor development,typical facial dismorphism and hypertrichosis.Cranial MRI showed the spinal canal is narrowed at the level of cervical 1,and the spinal cord becomes thinner due to compression.Atlantoaxial CT:the anterior and posterior arches of the atlas are not closed;the cervical 2-3 pyramids are fused.The distance between the odontoid process and the two sides of the block is not equal.Whole-exome sequencing revealed that the child carried the KMT2A gene,and had a heterozygous mutation:c.2318dup heterozygous mutation,which resulted in a nonsense amino acid mutation(p.Ser774ValfsTer12).In recent years,with the increase in the number of WDSTS reports,it’s genotype and phenotype spectrum have continued to expand,and CVJ malformation has also been included in the WDSTS phenotype spectrum.At present,there are no domestic reports of WDSTS combined with CVJ,which is largely overlooked.Through the report of this patient,it is expected to improve the understanding of the disease,so as to detect and prevent the complications caused by craniocervical junction deformity in WDSTS patients at an early stage.

关 键 词：Wiedemann-Steiner综合征 KMT2A基因 颅颈交界区 

分 类 号：R725.9[医药卫生—儿科]