【摘要】 石骨症是一组以破骨细胞减少或功能障碍为主要特征的遗传性骨代谢性疾病。婴儿恶性石骨症(MIOP)是其中最严重的类型，诊断主要依据典型临床表现及X线改变。该文报道1例MIOP患者的临床资料，患儿男，出生49 d，因肺炎入院。其有小下颌畸形，高颚弓，贫血、血小板减少，肝、脾肿大，X线检查显示全身骨密度增高，颅骨呈“面具征”，椎骨呈“夹心饼干样”，四肢长骨髓腔消失，干骺端膨大呈漏斗状。胸部CT显示胸腔变小。骨髓穿刺为“干抽”。确诊MIOP后予成分输血及抗感染治疗，好转出院。MIOP临床表现典型，儿科医师应提高对该病的认识水平，以及早诊断、治疗。

    【关键词】 婴儿;石骨症;小下颌畸形

    【Abstract】 Osteopetrosis is a group of inherited bone metabolic diseases mainly characterized with osteoclast loss and failure. Malignant infantile osteopetrosis (MIOP) is one of the most fatal types. The diagnosis of MIOP is largely dependent upon clinical manifestations and X ray. The clinical data of one MIOP infant were reported. The male infant was aged 49 d and admitted to our hospital due to pneumonia. He was diagnosed with micrognathia ......