幼儿特殊面容伴发育落后与多系统畸形

发布时间：2018-02-12 18:35

本文关键词： Schinzel-Giedion综合征 SETBP 特殊面容发育落后儿童　出处：《中国当代儿科杂志》2017年08期 　论文类型：期刊论文

【摘要】：Schinzel-Giedion综合征(SGS)是非常罕见的一种常染色体显性遗传病。主要临床特征为严重的发育迟缓、特殊面容以及多发畸形。本文报道1例14个月男性患儿,主要表现为发育落后、特殊面容:前额凸,面中部回缩,眼距宽,耳位低,鼻孔上翻,小下颌;同时伴有多发畸形:脑发育不良、髋关节脱位、隐睾等。染色体核型分析及拷贝数变异均提示无明显异常,全外显子基因测序显示患儿携带SETBP1基因c.2602GA(p.D868N)新生杂合错义突变,因此确诊为SGS。该患儿的肌阵挛发作经过丙戊酸钠治疗得到较好控制,其语言发育在康复治疗后也得到轻度改善。临床医师应提高对SGS这一类罕见病的识别能力,对于特殊面容伴发育障碍及多发畸形的患者要考虑到该病,基因检测可提高诊断能力。
[Abstract]:Schinzel-Giedion syndrome (SGS) is a very rare autosomal dominant genetic disease. The main clinical features of severe retardation, special face and multiple malformations. This paper reported 1 cases of male patients 14 months, mainly for the development of backward, special face: forehead convex, midface retraction, wide between the eyes the ear, nose, turn, micrognathia; accompanied by multiple malformations: brain dysplasia, hip dislocation, cryptorchidism. Karyotype analysis and copy number variation showed no obvious abnormalities, all exons of gene sequencing showed that patients carrying SETBP1 gene c.2602GA (p.D868N) new heterozygous missense mutations, so the children were diagnosed as SGS. after sodium valproate in the treatment of myoclonic seizures were controlled well, the language development has also been improved slightly in the rehabilitation after treatment. Clinicians should improve the SGS of this kind of rare disease recognition ability for special Patients with dysplasia and multiple malformations should take into account the disease, and gene detection can improve the diagnostic ability.

【作者单位】：复旦大学附属儿科医院神经内科;
【基金】：科技部重大专项基金(2016YFC0904400)
【分类号】：R725.9

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