身材矮小、短指、高PTH血症

Short stature,brachydactyly,hyperparathyroidemia

一例8.5岁女童主要表现为身材矮小、特殊面容、短指畸形;实验室检查示高甲状旁腺素血症、血钙正常、亚临床甲状腺功能减退,目的基因捕获联合二代测序技术检测结果提示患者存在PRKAR1A基因杂合突变[c.866G>A(p.G289E)]。结合患者临床特征及基因测序结果,诊断肢端发育不良、假性甲状旁腺功能减退症、亚临床甲状腺功能减退症。

A 8.5-year-old girl with rare acrodysostosis type 1(ACRDYS1)was reported.She presented with short stature,special facial appearance,and brachydactyly.Laboratory test showed elevated parathyroid hormone level,normal serum calcium level,and subclinical hypothyroidism.A heterozygous mutation of c.866G>A(p.G289E)in PRKAR1A gene was detected by the targeted next generation sequencing in the patient.Combination with clinical manifestations and gene sequencing,the diagnosis was acrodysostosis,pseudohypoparthyroidism,and subclinical hypothyrodism.