患者女,2岁,因左上、下肢畸形,左上肢及下肢较右侧明显缩短,颈部粗短入院。眼科检查示双眼白内障。X线示:全身骨骼系统多发点状钙化影,主要分布于骨骺无明显增宽(图1~5)。病理诊断:先天性点状软骨营养障碍。讨论:本病又称点状骨骺,病理改变为近关节面的骨骺中心呈黏液变性导致 Female patient, 2 years old, due to left upper and lower limb deformity, left upper limb and lower limb significantly shorter than the right, stubby neck hospitalization. Eye examination showed binocular cataracts. X-ray shows: systemic skeletal system more punctate calcification, mainly in the epiphysis was not significantly broadened (Figure 1-5). Pathological diagnosis: congenital punctate cartilage dysfunction. Discussion: The disease is also known as punctate epiphyseal, pathological changes near the epiphyseal surface of the epiphysis mucinous degeneration led to