婴儿进行性异位骨化症一例报告OA北大核心CSTPCD
A case report of progressive osseous heteroplasia in an infant
患儿男,6 月龄,因"全身多处结节进行性增大 4 月"入院,腹部皮肤病损病理检查符合钙质沉积症,基因测序检测显示患儿GNAS基因有一个杂合突变,为移码突变,考虑诊断为进行性异位骨化症.
This article reports a case of progressive osseous heteroplasia(POH)in a 6-month-old boy,who presented with ectopic ossification of the skin and subcutaneous tissue that developed slowly during the 4 months.An ab-dominal skin biopsy was undertaken which revealed calcareous deposition.Genetic testing revealed a heterozygous mutation in the GNAS gene,which is a frameshift mutation.
李政;别谊桥;王春雷
215000 江苏苏州,南京大学医学院附属苏州医院内分泌科224000 江苏盐城,盐城市第一人民医院ICU224000 江苏盐城,徐州医科大学盐城临床学院内分泌科||224000 江苏盐城,盐城市第一人民医院内分泌科
临床医学
进行性骨发育异常异位骨化GNAS基因
progressive osseous heteroplasiaheterotopic ossificationGNAS gene
《中华骨质疏松和骨矿盐疾病杂志》 2024 (002)
145-149 / 5
盐城市科学技术局基础研究面上项目(YCBK2023032)
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