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.2602G > A （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 is a rare autosomal dominant genetic disease and has the clinical features of severe delayed development, unusual facies, and multiple congenital malformations. In this case report, a 14-month-old boy had the clinical manifestations of delayed development, unusual facies (prominent forehead, midface retraction, hypertelorism, low-set ears, upturned nose, and micrognathia), and multiple congenital malformations (including cerebral dysplasia, dislocation of the hip joint, and cryptorchidism). The karyotype analysis and copy number variations showed no abnormalities, and whole exon sequencing showed a de novo heterozygous missense mutation, c.2602G > A (p. D868N), in SETBP1 gene. Therefore, the boy was diagnosed with Schinzel-Giedion syndrome. Myoclonic seizures in this boy were well controlled by sodium valproate treatment, and his language development was also improved after rehabilitation treatment. Clinical physicians should improve their ability to recognize such rare diseases, and Schinzel-Giedion syndrome should be considered for children with unusual facies, delayed development, and multiple malformations. Gene detection may help with the diagnosis of this disease.
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