目的　提高对X -连低磷酸盐血症的认识和诊断。方法　该家族共 3代 6例患者 ,男 2例 ,女 4例。年龄 12～ 66岁。 6例均经临床生化证实 ,选择先证者及其母亲摄取颅骨、双手及双腕关节、胸腰椎、骨盆、双膝关节和双胫腓骨平片。结果　临床表现以身材矮小、双下肢弯曲畸形、骨关节疼痛和低磷酸盐血症为主。X线表现有 :(1)肢体弯曲畸形 ;(2 )骨端膨大 ,关节面模糊伴囊变 ;(3 )承重肢体出现Looser带及骨间隔 ;(4 )儿童干骺端喇叭样膨大 ,干骺端毛刷征 ;(5 )骨转换表现 ;(6)松质骨骨小梁粗疏、细疏或呈网状 ;(7)骨皮质松化 ;(8)椎体“双框征” ,附件呈棉絮状改变 ;(9)髂骨翼骺下疏松带 ;(10 )耻骨联合、骶髂关节毛刷征 ;(11)骨盆口三角状或变扁、变形 ;(12 )多发性牙齿脱落。结论　X线表现与临床、生化特点相结合 ,可对X -连低磷酸盐血症做出正确诊断 Objective To improve the understanding and diagnosis of X - linked hypophosphatemia. Methods The family of 3 generations of 6 patients, 2 males and 4 females. Age 12 to 66 years old. 6 cases were confirmed by clinical biochemistry, the choice of proband and her mother intake of skull, hands and wrist, thoracolumbar, pelvis, double knee and tibiofibular plain film. Results The clinical manifestations were short stature, flexion and deformity of both lower extremities, bone and joint pain and hypophosphatemia. X-ray showed: (1) limb flexion deformity; (2) enlargement of the bone ends, articular surface with fuzzy cystic change; (3) bearing Looser band and bone spacing; (4) child metaphyseal horn-like enlargement, dry (5) bone conversion performance; (6) cancellous bone trabecular coarse, thin or reticular; (7) cortical loose; (8) vertebral body “double framing” (9) iliac epiphyseal loosening zone; (10) pubic symphysis, sacroiliac brush hair; (11) the pelvis triangular or flattening, deformation; (12) multiple teeth off . Conclusion The combination of X-ray findings with clinical and biochemical features can make a correct diagnosis of X-linked hypophosphatemia