患儿女,18个月,因不会行走、身材矮小就诊。体检:头颅及颜面部正常,身高70cm,躯干和四肢均较短,脊柱轻度后突,四肢关节粗大,尤以肘、膝关节明显,双侧髋、膝关节呈屈曲状,骶部见“尾样”皮肤皱褶。X线表现:四肢长骨粗短,干骺端明显增宽呈鼓槌状,双膝部骨骺相应较大(附图)。四肢短管骨也粗短,但相对较轻。脊柱轻度后突。诸胸腰椎体明显变扁,第1腰椎体呈舌状改变,椎间隙稍窄,椎弓根间距正常。髂骨 Children with children, 18 months, because they will not walk, short stature. Physical examination: Head and facial normal, height 70cm, torso and limbs are short, slight spinal posterior spine, limbs and joints thick, especially in the elbow, knee obvious, bilateral hip, knee flexion, see the sacral “ Tail-like ”skin folds. X-ray findings: limbs short bones, metaphyse significantly increased drumstick shape, double knee epiphyseal corresponding larger (with photos). Short limbs short stature, but relatively light. Spine mild kyphosis. The thoracic and lumbar vertebral body was significantly flattened, the first lumbar vertebral body showed lingual changes, a slight narrow intervertebral space, normal pedicle spacing. Ilium