【摘要】 文章报告了1例以皮肤异位骨化为首发症状的假性甲状旁腺功能减退症（pseudohypoparathyroidism,PHP）的临床与基因型关系，并进行了文献复习。该例患儿以皮肤硬结起病，病理活检提示皮肤异位骨化，GNAS1基因检测示外显子编码区杂合致病突变：c.140-2A>G，突变源于母亲。认为PHP可以异位骨化为首发症状，该病例丰富了此类罕见病的数据。更多还原

【Abstract】 To report a case of the pseudohypoparathyroidism with the initial manifestation of subcutaneous heterotopicossification and to explore the clinical characteristics and to investigate the correlation between clinical phenotypes andgenotypes.The boy was admitted due to subcutaneous hard nodules.The dermal biopsy showed the subcutaneousheterotopic ossification. GNAS1 analysis revealed a heterozygous mutation: c.140-2A>G, inherited from his mother. PHPIa can be diagnosed according to heterotopic ossification.This case enriches the data on this rare disease.更多还原