Abstract: Objective　To summarize the clinical features of Shprintzen-Goldberg syndrome and improve the understanding on the disease. Methods　The clinical data of a case of Shprintzen-Goldberg syndrome diagnosed in Shenzhen Children's Hospital were summarized and the related literatures were reviewed. Results　The child, male, G2P2, had a full-term delivery, without a family history of neurological diseases. Normal pregnancy and childbirth, low muscle tension after birth, currently lagging behind in motor development, 1 year old, he could not raise head, sit, or crawl, without twitch. Physical examination showed special facial features such as long head deformity, protruding forehead, widened eye distance, shallow orbit, stenosis of upper palate, high jaw arch, and small mandible, no abnormality on cardiopulmonary auscultation, no abnormality on physical examination of abdomen, slender fingers and toes. Auxiliary examination: head MRI showed bilateral lateral ventricles widened and slightly deformed, the anterior horn of the left lateral ventricle more prominent, bilateral ventricular subependymal cysts, foramen magnum and lower spinal stenosis in the craniocervical junction area, the anteroposterior diameter of the spinal canal about 5 mm, and the cervical spinal cord compressed. Head CT suggested craniosynostosis. Heart color Doppler ultrasound showed left-to-right shunt of atrial septum, with the size of about 0.37 cm. The karyotype was normal: 46XY. Whole-exome sequencing indicated that the SKI gene c.100G>C mutation was a missense mutation. The parents' genes were normal, and it was a new mutation. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this variant was pathogenic. The related literatures were reviewed, the child was in line with the clinical manifestations of Shprintzen-Goldberg syndrome, the gene was consistent, the mutation site had not been reported before, the mutation site was in the functional area of the gene, it was considered as a pathogenic variant combined with the protein function prediction software, and the diagnosis was considered combined with clinical manifestations. This disease had not been reported in detail in the Chinese literatures and was an autosomal dominant genetic disease. The disease mainly manifested as abnormal appearance, which can be combined with multi-system damages, mainly manifested as mental retardation, craniosynostosis, and slender limbs, similar to Marfan syndrome. The treatment was mainly symptomatic support. Conclusions　Shprintzen-Goldberg syndrome should be considered with developmental retardation + craniosynostosis + similar manifestations of Marfan syndrome, the diagnosis can be confirmed by timely three-dimensional CT examination of the skull and gene detection, and early intervention is implemented to improve the prognosis.

Key words: Shprintzen-Goldberg syndrome, Diagnosis, Gene detection

摘要： 目的　总结Shprintzen-Goldberg综合征的临床特点，提高对此病的认识。方法　总结深圳市儿童医院诊断的1例Shprintzen-Goldberg综合征临床资料，并查阅相关文献。结果　患儿，男，G2P2，足月顺产，无神经系统疾病家族史。孕产期正常，出生后肌张力低，目前运动发育落后，1岁，不会抬头，不会坐，不会爬，无抽搐。查体：特殊面容，长头畸形，前额突出，眼距增宽，浅眼眶，上腭狭窄，高颚弓，小下颌，心肺听诊未见异常，腹部查体未见异常，手指和脚趾细长。辅助检查：头颅MRI示双侧侧脑室增宽，略变形，以左侧侧脑室前角较显著，双侧脑室室管膜下囊肿，颅颈交界区枕骨大孔及下方椎管狭窄，椎管前后径约5 mm，颈髓呈受压表现。头颅CT提示颅缝早闭。心脏彩超提示房间隔左向右分流，大小约0.37 cm。染色体核型正常：46XY。全外显子测序提示：SKI基因c.100G>C突变，为错义突变。父母基因正常，为新发突变。根据美国医学遗传学与基因组学学会（ACMG）指南，该变异初步判定为致病性变异。查阅文献，患儿符合Shprintzen-Goldberg综合征的临床表现，基因相符，突变位点既往未报道过，但该突变位点在基因的功能区，结合蛋白功能预测软件，考虑为致病变异，加上临床表现，考虑该诊断。此疾病在中文文献未见详细的报道，为常染色体显性遗传病。主要表现为外貌的发育异常，可合并多系统的损害，表现为智力低下，颅缝早闭，四肢细长为主，类似马凡综合征。治疗以对症支持为主。结论　发育落后+颅缝早闭+类似马凡综合征表现应该考虑Shprintzen-Goldberg综合征可能，及时颅骨三维CT检查及完善基因检测明确诊断，早期干预改善预后。

关键词: Shprintzen-Goldberg综合征, 诊断, 基因检测