Friede H, Manaligod J R, Rosenthal I M
J Craniofac Genet Dev Biol. 1985;5(3):247-57.
Serial roentgencephalograms were taken (from the age of 2 to 8 years) of a female patient with malignant osteopetrosis. The roentgencephalograms were compared to those of a control patient with cleft lip and to other normative data. The calvaria of the osteopetrosis patient was very thick, increasing with age. The intracranial space was reduced in volume, resulting in compression of the brain. Roentgencephalometric characteristics of the facial skeleton included orbital hypertelorism, defective horizontal and vertical growth of the middle and lower face, and poorly developed dentoalveolar structures. The mandibular body was short in contrast to the wide ramus, both resulting from defective resorption of the anterior ramal border. A cone-shaped structure in the mandible extending from the condylar process into the ramus was noted. This was believed to consist of remnants of unresorbed, heavily calcified secondary cartilage constituting part of the condylar process present since intrauterine life. Recent treatment of malignant osteopetrosis by bone marrow transplantation early in life has resulted in some cases in normalization of bone structure and marrow. Serial roentgencephalometry provides a sensitive method of assessing craniofacial development in cases of osteopetrosis and presumably can be used to evaluate the effects of therapy.
对一名患有恶性骨硬化症的女性患者（从2岁到8岁）进行了系列头颅X线片检查。将这些头颅X线片与一名唇裂对照患者的片子以及其他正常数据进行了比较。骨硬化症患者的颅骨非常厚，并随年龄增长。颅内空间体积减小，导致大脑受压。面部骨骼的头颅X线测量特征包括眶距增宽、中面部和下部面部水平及垂直生长缺陷以及牙槽结构发育不良。与宽阔的下颌支相比，下颌体较短，两者均由下颌支前缘吸收缺陷所致。在下颌骨中发现了一个从髁突延伸至下颌支的锥形结构。据信这是由自子宫内生活以来就存在的构成髁突一部分的未吸收、高度钙化的继发软骨残余组成。近期在生命早期通过骨髓移植治疗恶性骨硬化症，在一些病例中已使骨骼结构和骨髓恢复正常。系列头颅X线测量提供了一种评估骨硬化症患者颅面发育的敏感方法，并且大概可用于评估治疗效果。
