Craniofacial abnormalities in osteopetrosis with precocious manifestations: report of a case with serial cephalometric roentgenograms.

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.