摘要
目的 对2020年8月四川大学华西第二医院接诊的1例Schmid型干骺端软骨发育不良患儿的临床资料进行回顾性分析。方法 收集先证者及其家系成员临床资料,分析其临床特点。对先证者父母及其进行家系全外显子测序。结果 先证者,男,6岁3月龄,因“走路姿势异常4+年,身材矮小”就诊。双侧髋关节X线发现,双侧股骨颈明显短缩,干骺端及骨骺骨质密度不均匀增高、边缘毛躁。基因检测发现COL1OA1基因第3外显子c.1900_1991del杂合突变,目前国内外尚未见报道。结合患儿临床表现及检查结果,诊断为Schmid型干骺端软骨发育不良。结论 该病例扩展了COL1OA1基因的突变位点,并提示临床医生对于身材比例异常的矮身材患儿,需要高度警惕骨代谢性疾病,X光影像学检查可以提供较为可靠的先行证据,必要时可采取遗传学分析。
Objective The clinical data of a case of Schmid type metaphyseal chondrodysplasia admitted to West China Second University Hospital of Sichuan University in August 2020 were retrospectively analyzed.Methods The clinical data of proband and their family members were collected to analyze their clinical characteristics.The proband’s parents and their family exons were sequenced.Results The proband,male,6 years and 3 months old,was hospitalized due to ‘abnormal walking posture for over 4 years and short stature’.X-ray of bilateral hip joint results found that bilateral femoral necks were significantly shortened,and the bone density of metaphysis and epiphysis increased unevenly with irritable edge.Genetic analysis showed that the c.1900_1991del in exon 3 of COL1OA1 gene mutated heterozygous,which has not been reported at home and abroad.Combined with the clinical manifestations and examination results,the proband was diagnosed as Schmid type metaphyseal chondrodysplasia.Conclusion This case expanded the mutation site of COL1OA1 gene,and it is suggested that clinicians should be highly alert to bone metabolic disease for short children with abnormal body proportions.X-ray imaging examination can provide relatively reliable advance evidence,and genetic analysis should be carried out if necessary.
作者
龙睿
李晋蓉
余涛
LONG Rui;LI Jingrong;YU Tao(Department of Child Health Care,West China Second University Hospital,Sichuan University Key Laboratory of Birth Defects and Related Disease of Women and Children of the Ministry of Education,Chengdu,Sichuan 610000,China)
出处
《中国优生与遗传杂志》
2022年第3期490-493,共4页
Chinese Journal of Birth Health & Heredity