粘多糖病Ⅳ型(MPSⅣ),又称遗传性软骨营养障碍,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-乙酰氨基乳糖-6硫酸脂酶,导致全身骨髂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、胸前突、驼背、矮小侏儒样体态。国内近年报告约10余例,我省未曾报告。今将我院20余年来仅见 Mucopolysaccharidosis type IV (MPSIV), also known as genetic chondropodal dysfunction, malformant cartilage malnutrition, Morquio’s disease. Family history, autosomal recessive inheritance. Due to the lack of N-acetylgalactosamine-6 ​​sulfatase, leading to widespread disease beyond the head and face of the general iliac arteries, mainly affecting the spine and articular cartilage. Short neck performance, sudden chest, humpback, short dwarf-like body posture. In recent years, about 10 cases of domestic reports, our province has not reported. I will see this hospital for more than 20 years