【摘要】 目的　提高对假性甲状旁腺机能减退症 (PHP)的认识和诊断。方法　发现PHP先证者后 ,对其家族进行了调查。该家族共 4代 6例患者 ,男 4例 (死亡 2例 ) ,女 2例。现存 4例年龄最大者 5 5岁 ,最小者 8岁。 6例均经临床生化证实 ,选择 2例摄取手平片和头颅CT片。结果　 6例均有典型的Albright遗传性骨营养不良症体型、短指 (趾 )畸形。 2例行X线检查者表现为掌、指骨粗短 ,颅骨增厚、基底节区呈对称性钙化。结论　影像学表现与临床特点相结合 ,可对PHP做出明确诊断。更多还原

【Abstract】 Objective To improve the recognition and diagnosis of pseudohypoparathyroidism (PHP). Methods Six subjects with PHP of 4 generations in one family were investigated and studied. There were 4 males (including 2 deaths) and 2 females. The age of 4 surviving patients was from 8 to 55 years. All cases were proved by clinical biochemistry tests. Plain film of hands and head CT scans were performed in 2 selected patients. Results The somatotype of Albright hereditary osteodystrophy (AHO) and short fingers and toes were found in all cases. Radiologic features were as follows:(1)short metacarpals and phalanges.(2)skull thickening and symmetrical calcification of basal ganglia. Conclusion The diagnosis of PHP can be established by close combination of radiologic findings and clinical manifestations.更多还原