Friede H, Matalon R, Harris V, Rosenthal I M
J Craniofac Genet Dev Biol. 1985;5(3):267-76.
Serial roentgencephalograms of a male patient with Kniest dysplasia were obtained between 1 7/12 and 11 3/12 years of age and were analyzed and compared to cephalometric normative data. The patient displayed macrocephaly with increased size of the neurocranium in all three dimensions. The cranial base angle was significantly flattened, partly as a result of anterior displacement of the sella turcica. The odontoid process was short and wide. At 11 years of age there was bony fusion between the anterior arch of the atlas and the odontoid process as well as between the posterior arch of the atlas and the cranial base. The facial skeleton, including the nasal bones, infra-orbital rims, maxilla and mandible, was retropositioned relative to the anterior cranial base. The mandibular retrognathia was pronounced at an early age but improved with growth. At age 11 years the patient had a straight facial skeletal profile. Examination of the patient's 24-hour urinary excretion of keratan sulfate revealed values markedly elevated for his age. Three additional patients with Kniest dysplasia demonstrated similarly increased excretion of this glycosaminoglycan. The diagnosis of Kniest dysplasia can usually be made from roentgenograms of the extremities, the spine, and the pelvis. However, the morphologic characteristics of the head, as shown by cephalometric analysis, and the increased urinary excretion of keratan sulfate add confirmatory evidence useful in differential diagnosis.
对一名患有克尼斯发育不良的男性患者在1岁7个月至11岁3个月期间进行了系列头颅X线片检查，并与头颅测量的正常数据进行了分析和比较。该患者表现为巨头畸形，神经颅骨在所有三个维度上的大小均增加。颅底角明显变平，部分原因是蝶鞍前移。齿突短而宽。在11岁时，寰椎前弓与齿突之间以及寰椎后弓与颅底之间出现了骨融合。包括鼻骨、眶下缘、上颌骨和下颌骨在内的面部骨骼相对于前颅底向后移位。下颌后缩在早期很明显，但随着生长而改善。在11岁时，该患者面部骨骼轮廓变直。对该患者24小时尿硫酸角质素排泄量的检查显示，其值相对于其年龄明显升高。另外三名患有克尼斯发育不良的患者也表现出类似的这种糖胺聚糖排泄增加。克尼斯发育不良的诊断通常可以根据四肢、脊柱和骨盆的X线片做出。然而，通过头颅测量分析显示的头部形态特征以及尿硫酸角质素排泄增加为鉴别诊断提供了有用的佐证。
