粘多糖病Ⅳ型(MPSⅣ),又称遗传性骨软骨营养障碍、畸形性软骨营养不良、Morquio 氏病。有家族史,为常染色体隐性遗传。由于缺乏N-乙酰氨基己糖-6硫酸脂酶,导致全身骨骼除头面部外的广泛病变,主要影响脊柱化骨和关节软骨。表现颈短,胸骨前突,驼背,矮小侏儒样体态。国内近年报告约10余例,我省尚无报告。今将我院所见一例报告如下:患儿段××,女,11岁,病历号 Mucopolysaccharidosis type Ⅳ (MPS Ⅳ), also known as hereditary osteochondral dystrophy, malformant cartilage dystrophy, Morquio’s disease. Family history, autosomal recessive inheritance. Lack of N-acetylglucosamine hexosulfate lipase leads to widespread disease outside of the head and face of the whole body, primarily affecting the spine and articular cartilage. Short neck performance, sternal anterior process, humpback, short dwarf-like body posture. In recent years, about 10 cases of domestic reports, our province has not yet reported. This hospital will see a case of the report as follows: Children × ×, female, 11 years old, medical record number